The inverse correlation between serum levels of anti-pneumococcal and ferritin after pneumococcal vaccination in splenectomised beta thalassemia major

Splenectomy is necessary in beta thalassemia major patients when the spleen becomes hyperactive, leading to extreme destruction of erythrocytes. This study assessed the ferritin effect on serum pneumococcal antibody response following pneumococcal vaccination, in patients with beta thalassemia major after splenectomy. In this case series study, convenience sampling was used to recruit 347 splenectomised beta thalassemia patients under the auspices of Jahrom University of Medical Sciences. Demographic data such as age, sex, and time after splenectomy were recorded by a questionnaire. All participants had been splenectomised and received a dose of Pneumovax1 23 vaccine 14 days before surgery. The IgG antibody responses to pneumococcal vaccine and levels of serum specific ferritin were determine by commercial enzyme immunoassay kits. For the analysis, SPSS software version 16 was used. A p-value less than 0.05 was considered statistically significant. Most of the participants (63.4 percent) were hypo-responders to pneumococcal vaccine. Also, serum anti-pneumococcal IgG antibody was related to post splenectomy duration and serum ferritin (p 0.05). An important result was a relation of serum anti-pneumococcal IgG antibody to serum ferritin according to post splenectomy duration groups. Therefore, in three groups of post splenectomy duration, the serum ferritin was higher in hypo-responder than in good responder subjects. Our results indicate that serum anti-pneumococcal IgG antibody decreased with increment of serum ferritin and post splenectomy duration. Thus, there is a need to re-address the approach towards revaccination in this immune-compromised group of patients by administering a booster pneumococcal vaccination in an attempt to recover immunity and reduce morbidity(AU)

La esplenectomía es necesaria en pacientes con beta talasemia mayor cuando el bazo se vuelve hiperactivo, lo que lleva a una destrucción extrema de los eritrocitos. Este estudio evaluó el efecto de la ferritina sobre la respuesta de anticuerpos antineumocócicos en suero después de la vacunación antineumocócica, en pacientes con talasemia beta mayor a los que se les realizó esplenectomía. En este estudio de serie de casos, se utilizó un muestreo de conveniencia para reclutar a 347 pacientes con beta talasemia esplenectomizados bajo los auspicios de la Universidad de Ciencias Médicas de Jahrom. Los datos demográficos como la edad, el sexo y el tiempo después de la esplenectomía se registraron mediante un cuestionario. Todos los participantes fueron esplenectomizados y recibieron una dosis de la vacuna Pneumovax® 23, 14 días antes de la cirugía. Las respuestas de anticuerpos IgG a la vacuna neumocócica y los niveles de ferritina sérica específica se determinaron mediante estuches comerciales de inmunoensayo enzimático. Para el análisis se utilizó el programa SPSS versión 16. Un valor de p inferior a 0,05 se consideró estadísticamente significativo. La mayoría de los participantes (63,4 por ciento) resultaron hiporrespondedores a la vacuna antineumocócica. Además, el anticuerpo sérico antineumocócico IgG se relacionó con la duración de la esplenectomía y la ferritina sérica (p0,05). Un resultado importante fue la relación del anticuerpo sérico IgG antineumocócico con la ferritina sérica según los grupos de duración postesplenectomía. Por lo tanto, en tres grupos de duración posterior a la esplenectomía, la ferritina sérica fue mayor en los sujetos con hiporrespuesta que en los sujetos con buena respuesta. Nuestros resultados indican que el anticuerpo sérico IgG antineumocócico disminuyó con el incremento de la ferritina sérica y la duración posterior a la esplenectomía. Por lo tanto, existe la necesidad de volver a abordar el enfoque hacia la revacunación en este grupo de pacientes inmunocomprometidos mediante la administración de una vacunación antineumocócica de refuerzo en un intento por recuperar la inmunidad y reducir la morbilidad(AU)

Prevalence Rate and Risk Factors of Hypothyroidism in Children with Beta Thalassemia Major in Zhuhai Area / 中国实验血液学杂志

OBJECTIVE@#To investigate the prevalence rate of hypothyroidism in children with β-thalassemia major (β-TM) and its risk factors.@*METHODS@#A total of 86 children with β-TM treated and followed up in the Department of Pediatrics of the Fifth Affiliated Hospital of Sun Yat-Sen University, Zhuhai Municipal Maternal and Child Health Care Hospital from August 2018 to August 2020 were enrolled. The clinical data of the children were analyzed to investigate the prevalence rate of hypothyroidism in children with β-thalassemia major (β-TM) and its risk factors.@*RESULTS@#The prevalence rate of hypothyroidism in children with β-TM in Zhuhai area was 17.4%. The level of serum ferritin(SF) (4948.27±1225.33 μg/L) in hypothyroidism children was significantly increased(t=10.273，P<0.05). The prevalence rate of hypothyroidism was significantly higher in β-TM children(age ≥10 years old, SF ≥2 500 μg/L and irregular iron removal) (P<0.05). Logistic regression result showed that age ≥10 years old was the independent risk factor affecting the increasing of hypothyroidism rate in the children. The levels of SF(3880.60±1269.17 μg/L), TSH(4.43±1.52 mIU/L) and the prevalence rate of hypothyroidism(37.14%)(P<0.05) were higher for the children in irregular iron removal group.@*CONCLUSION@#The prevalence rate of hypothyroidism in children with β-TM in Zhuhai area is high, and it is related to the age ≥10 years old, SF ≥2 500 μg/L and irregular iron removal of the children.

Nature and severity of dental malocclusion in children suffering from transfusion-dependent (-thalassemia major

ABSTRACT Objective: To evaluate the prevalence and severity of malocclusion in children suffering from β-thalassemia and to assess orthodontic treatment need using Grainger's Treatment Priority Index (TPI) and index of orthodontic treatment need (IOTN)-dental health component (DHC). Methods: A cross-sectional study was conducted on 200 transfusion-dependent children diagnosed with homozygous β-thalassemia and 200 healthy school children aged 11-17 years. The TPI and IOTN-DHC data was recorded for both groups. Total TPI score for each subject was calculated and graded according to malocclusion severity estimate (MSE). Independent sample t-test was used to compare mean TPI scores, overjet and overbite between thalassemic and healthy children. Chi-square test was used to compare the frequency of IOTN-DHC grades, Angle's classification, and MSE grades between thalassemic and healthy children. Results: The most prevalent malocclusion was Class I in normal children (67.5%) and Class II in thalassemic children (59%). The mean overjet and overbite were significantly (p<0.001) greater in thalassemic children than in healthy children. Severe tooth displacements were 3.5 times greater in thalassemic children, compared to controls. A greater proportion of thalassemic children were in IOTN grades 3 and 4, compared to the controls (p<0.001). MSE grades 4 and 5 were significantly (p<0.001) more prevalent in thalassemic children, compared to the controls. Conclusion: There is a high prevalence of Angle's Class II malocclusion in thalassemic children. Majority of these children are categorized in higher grades of IOTN-DHC and TPI-MSE, showing a great severity of malocclusion and high orthodontic treatment needs.

RESUMO Objetivo: Avaliar a prevalência e gravidade da má oclusão em crianças que sofrem de beta-talassemia e mensurar a necessidade de tratamento ortodôntico usando o Índice de Prioridade de Tratamento (IPT) de Grainger e o Índice de Necessidade de Tratamento Ortodôntico (Index of Orthodontic Treatment Need - IOTN) - Componente de Saúde Dental (Dental Health Component - DHC). Métodos: Um estudo transversal foi conduzido com 200 crianças com diagnóstico de beta-talassemia homozigótica dependentes de transfusão e 200 crianças saudáveis em idade escolar, entre 11 e 17 anos. Os dados do IPT e do IOTN-DHC foram documentados para ambos os grupos. A pontuação total do IPT para cada sujeito foi calculada e classificada de acordo com a Estimativa de Severidade da Má oclusão (ESM). O teste t para amostras independentes foi usado para comparar os escores médios de IPT, sobressaliência e sobremordida, entre as crianças saudáveis e as com talassemia. O teste qui-quadrado foi usado para comparar a frequência dos escores do IOTN-DHC, a classificação de Angle e os escores do ESM entre crianças com beta-talassemia e crianças saudáveis. Resultados: A má oclusão mais prevalente foi a Classe I em crianças normais (67,5%) e a Classe II em crianças com beta-talassemia (59%). Os valores médios de sobressaliência e a sobremordida foram significativamente (p< 0,001) maiores em crianças com beta-talassemia do que em crianças saudáveis. Os deslocamentos dentários graves foram 3,5 vezes maiores em crianças com beta-talassemia em comparação com os controles. Uma proporção maior de crianças com beta-talassemia estava nos escores 3 e 4 do IOTN em comparação com os controles (p <0,001). Os escores 4 e 5 de ESM foram significativamente (p< 0,001) mais prevalentes em crianças com beta-talassemia em comparação com os controles. Conclusão: Há uma alta prevalência de má oclusão de Classe II de Angle em crianças com beta-talassemia. A maioria dessas crianças é categorizada em escores superiores de IOTN-DHC e IPT-ESM, mostrando uma grande gravidade de má oclusão e alta necessidade de tratamento ortodôntico.

Hepatitis E virus prevalence in Egyptian children with transfusion-dependent thalassemia

ABSTRACT Hepatitis E virus (HEV) infection is one of the major public health problems in developing countries. HEV can cause chronic infections in immunocompromised individuals e.g. thalassemic patients with increased risk of morbidity and mortality. In addition there is possibility of HEV transmission through blood transfusion. Therefore, the present study aimed to investigate the seroprevalence and risk factors of HEV infection in β-thalassemic children. Methods: This cross-sectional study was conducted on 140 Egyptian children suffering from β-thalassemia, attending the hematology outpatient clinic from April to October 2016. Serum samples from patients were collected and anti-HEV antibodies; Immunoglobulin G (IgG) and Immunoglobulin M (IgM)were measured by enzyme-linked immunosorbent assay (ELISA). Results: The seroprevalence of HEV in β-thalassemic chidren was relatively high (27.15%). Anti-HEV IgG prevalence was 24.29% while that of IgM was 2.86%. There was significant association between HEV infection and age, residence, liver enzymes and amount of blood transfusion per year. Conclusions: Thalasemic patients are vulnerable to chronicity and increased risk of morbidity and mortality from HEV infection. Frequent assessment of liver enzymes in thalassemic patients to monitor subclinical HEV is recommended. Close monitoring and HEV screening of blood donations should be taken in consideration. Public awareness about HEV endemicity, modes of transmission, and risk hazards especially in high risk group should be done to reduce the disease burden.

Prevalência de hemoglobinopatias na população adulta brasileira: Pesquisa Nacional de Saúde 2014-2015 / Prevalence of hemoglobinopathies in the Brazilian adult population: National Health Survey 2014-2015

RESUMO: Objetivo: Descrever a prevalência das hemoglobinopatias da população adulta brasileira, segundo exames laboratoriais da Pesquisa Nacional de Saúde. Métodos: Estudo descritivo realizado com os dados laboratoriais da Pesquisa Nacional de Saúde coletados entre os anos de 2014 e 2015. A pesquisa de hemoglobinopatias foi feita pelo método da cromatografia líquida de alto desempenho. Os resultados dos exames individuais foram interpretados fornecendo os parâmetros normais, homozigotos ou heterozigotos para hemoglobina S, C e D, além de outras eventuais hemoglobinopatias. Foram estimadas prevalências das hemoglobinopatias segundo sexo, cor da pele, região, idade e escolaridade. Resultados: Houve presença de hemoglobinopatias em 3,7% da população. As principais foram o traço falciforme (2,49%), a talassemia menor (0,30%) e a suspeita de talassemia maior (0,80%). Em relação ao traço falciforme e à suspeita de talassemia maior, houve diferença estatisticamente significativa para a variável cor da pele (p < 0,05). As prevalências encontradas para traço falciforme segundo cor de pele foram: preta (4,1%), parda (3,6%), branca (1,2%) e outras (1,7%). Conclusão: As hemoglobinopatias mais prevalentes foram o traço falciforme e a talassemia menor, predominando entre pretos e pardos. O estudo ajuda na identificação das hemoglobinopatias e no aconselhamento genético na preconcepção.

ABSTRACT: Objective: To describe the prevalence of hemoglobinopathies in the Brazilian adult population, according to laboratory tests from the National Health Survey. Methods: A descriptive study was carried out with National Health Survey laboratory data collected between 2014 and 2015. The hemoglobinopathies test was performed using the High Performance Liquid Chromatography method. The results of the individual tests were interpreted as providing normal, homozygous or heterozygous results for S, C and D hemoglobin, in addition to other possible hemoglobinopathies. Prevalence of hemoglobinopathies according to gender, skin color, region, age and schooling was estimated. Results: Hemoglobinopathies were present in 3.7% of the population. The main ones were the sickle cell trait (2.49%), thalassemia minor (0.30%) and suspected thalassemia major (0.80%). In relation to the sickle cell trait and suspected thalassemia major, there was a statistically significant difference for the skin color variable (p<0.05). The prevalences found for sickle cell trait according to skin color was: 4.1% among dark-skinned blacks, 3.6% among light-skinned blacks, 1.2% among whites, and 1.7% among others. Conclusion: The most prevalent hemoglobinopathies were the sickle cell trait and minor thalassemia, and were predominate among light- and dark-skinned black people. The study helps in identifying hemoglobinopathies and in genetic counseling in pre-conception.

Effect of coping strategies training on its use by thalassemia major adolescents: a randomized controlled clinical trial

Thalassemia is a chronic disease with serious clinical and psychological challenges. The incidence of thalassemia in a family member may cause a psychological crisis in all family members and in this case coping strategies are required. This clinical trial study aimed to determine the impact of training coping strategies on their use by major thalassemic adolescents referred to Dastgheib Hospital in Shiraz. In this randomized clinical trial, 87 adolescents with major thalassemia who were randomly assigned to two groups of experiment and control were enrolled. Then the experiment group attended six sessions of coping strategies training program in isolation, each lasting for one and half hour. In order to examine the coping strategies, Jalowice's coping strategy questionnaire was used in three periods including pre-intervention period and one month and two months after the intervention. The collected data were analyzed using independent t-test and Chi-square. Mean scores of problem-focused coping strategies in the experiment group increased in one month and two months after the intervention from 45 +/- 12.7 to 54.8 +/- 7.3 and 55.7 +/- 7.2, respectively. Also, the difference in mean scores of problem-focused coping strategies was significant in the two groups [P<0.001]. Furthermore, the difference in mean scores of emotion-focused coping strategies was significantly different between the two groups in two months after the intervention [P=0.007]. Based on the obtained results, teaching coping strategies has improved the use of problem-focused coping strategies and also effective coping with stress and disease problems in patients with thalassemia major. Therefore, it is recommended that authorities should consider this as a part of treatment program

Early diagnosis of co-existent ß-thalassemia and alkaptonuria.

Since the aggregate incidence of inborn errors of metabolism is relatively high, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of alkaptonuria an autosomal recessive disorder that occurs due to deficiency of homogentisic acid oxidasein a β-thalassemia infant presenting with reddish discoloration of nappies and clothes, breath holding spells, and microcytic hypochromic anemia. Born to consanguineous cousins, to our knowledge, the combination of β-thalassemia and alkaptonuria, which we have described in this baby, has not been reported earlier.

Comparison of in-vitro and in-vivo response to fetal hemoglobin production and γ-mRNA expression by hydroxyurea in Hemoglobinopathies.

BACKGROUND: Hydroxyurea, which induces Fetal hemoglobin (HbF) synthesis, is the only drug widely used in different hemoglobinopathies; however, the response is very variable. We compared the efficacy of hydroxyurea in-vitro in erythroid cultures and in-vivo in the same patients with different hemoglobinopathies to induce HbF production and enhance γ-messenger RNA expression. MATERIALS AND METHODS: A total of 24-patients with different Hemoglobinopathies were given hydroxyurea and their response was studied in-vivo and in-vitro on mononuclear cells collected from them simultaneously. RESULTS: A total of 57.7% of patients (responders) showed no further crisis or transfusion requirements after hydroxyurea therapy with a mean increase in fetal cells (F-cells) of 63.8 ± 59.1% and γ-mRNA expression of 205.5 ± 120.8%. In-vitro results also showed a mean increase in F-cells of 27.2 ± 24.7% and γ-mRNA expression of 119.6% ± 65.4% among the treated cells. Nearly 19.0% of the partial-responders reduced their transfusion requirements by 50% with a mean increase in F-cells of 61.2 ± 25.0% and 28.4 ± 25.3% and γ-mRNA-expression of 21.0% ± 1.4% and 80.0% ± 14.1% in-vivo and in-vitro respectively. The non-responders (15.3%) showed no change in their clinical status and there was no significant increase in F-cells levels and γ-mRNA expression in-vivo or in-vitro. CONCLUSION: Thus, this method may help to predict the in-vivo response to hydroxyurea therapy; however, a much larger study is required.

Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications.

Background: β -Thalassaemia, an autosomal recessive hemoglobinopathy, is one of the commonest genetically transmitted disorders throughout the world. Collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing β-thalassemia. Aim: To achieve this objective, Identification of the spectrum of genetic mutations, especially for various ethnic backgrounds in Pakistan. Therefore, we designed a cross sectional prospective study to identify the frequency of various gene mutations in different ethnic groups of Pakistan. Materials and Methods: Over a 5-year period, DNA from 648 blood samples {including specimens of chorionic villus sampling (CVS)} were analyzed for the twelve most common β-thalassemia mutations found in the Pakistani population by a Multiplex amplification refractory mutation system (ARMS). Each sample was analyzed for the mutation as well as the normal gene, appropriate with negative and positive controls, and reagent blanks. Results: Out of 648 samples mutations were identified in 640 (98.75%) samples by multiplex ARMS. 8 common β-thalassemia mutations were identified in 8 different ethnic groups accounting for 93.9% of the β-thalasemia alleles. Conclusions: Based on the outcome of this study a cost effective proposal is formulated for detection of β-thalassemia mutations.

Prevalence and hematological profile of β-thalassemia and sickle cell anemia in four communities of Surat city.

Background: From the data of transfusion-dependent thalassemia major cases, the 4 communities (Muslim, Dhodia Patel, Kachhiya Patel, and Modh Bania) with high prevalence but not studied methodically were selected. Aim: The aim of this study is to find prevalence of β-thalassemia and sickle cell anemia in 4 selected communities and also to evaluate hematological profile in them. Materials and Methods: For screening of β-thalassemia trait (BTT) and sickle cell trait (SCT), all samples were tested for red cell indices, solubility, HbA 2 level and doubtful cases confirmed on HPLC. Statistical Analysis: Mean ± SD, χ2 and 't' tests were used to evaluate the significance. Results and Conclusion: Among 4 selected communities, the highest prevalence of BTT was observed in Modh Bania (6.2%) and Kachhiya Patel (6.05%) and that of SCT in Dhodia Patel (14.0%). Significantly higher prevalence of BTT was observed in Memon ( P < 0.0001) and of SCT in Khalifa 6.6% ( P < 0.0001) compared to other Muslim sub castes. Anemia was more prevalent in BTT compared to non-BTT and non-SCT subjects. 80% of Dhodia Patel non-BTT and non-SCT subjects showed microcytic red cell morphology. Their Mean ± SD Hb concentration was 12.1 ± 1.73, hence iron deficiency cannot be a sole reason. This community needs α-thalassemia and iron studies.

Resultados de un programa de pesquisa prenatal de la talasemia grave / Results of an antenatal screening programme for beta-thalessemia

Objetivos: Detectar el rasgo beta-talasémico durante el control prenatal de mujeres en la primera etapa del embarazo; reducir el nacimiento de niños homocigotos con beta-talasemia. Métodos: Se incluyeron embarazadas de hasta 18 semanas de gestación con antecedentes de no más de 3 embarazos, que asistían a una clínica de control prenatal. Se realizó una pesquisa mediante la estimación del volumen corpuscular medio, la hemoglobina corpuscular media y la prueba NESTROF. Se controló también a los esposos de las mujeres con pruebas positivas. Si ambos padres eran positivos, se confirmó el diagnóstico por medio de cromatografía líquida de alto rendimiento. Para la detección fetal de las parejas positivas se efectuó biopsia de vellosidades coriónicas o amniocentesis. Se ofreció la interrupción del embarazo a las mujeres con fetos con talasemia grave. Resultados: Se efectuó la pesquisa a 17339 madres en el período comprendido entre octubre de 1999 y marzo de 2010. Las pruebas de cribado fueron positivas para el volumen corpuscular medio, la hemoglobina corpuscular media y la pruebas de NESTROF en el 11.02%, 18.76% y 12.62% de las embarazadas, respectivamente. El 1.98% de las mujeres eran portadoras confirmadas. Un total de 54 parejas requirieron pruebas diagnósticas prenatales fetales. Se detectó talasemia grave en 19 fetos; todos esos embarazos fueron interrumpidos. Se encontró rasgo talasémico en 16 fetos. Conclusión: La pesquisa prenatal de la beta-talasemia es un abordaje rentable para evitar el nacimiento de niños afectados, en especial en países de alta prevalencia.

Haemoglobinopathies in Southeast Asia.

In Southeast Asia α-thalassaemia, β-thalassaemia, haemoglobin (Hb) E and Hb Constant Spring (CS) are prevalent. The abnormal genes in different combinations lead to over 60 different thalassaemia syndromes, making Southeast Asia the locality with the most complex thalassaemia genotypes. The four major thalassaemic diseases are Hb Bart's hydrops fetalis (homozygous α-thalassaemia 1), homozygous β-thalassaemia, β-thalassaemia/Hb E and Hb H diseases. α-Thalassaemia, most often, occurs from gene deletions whereas point mutations and small deletions or insertions in the β-globin gene sequence are the major molecular defects responsible for most β-thalassaemias. Clinical manifestations of α-thalassaemia range from asymptomatic cases with normal findings to the totally lethal Hb Bart's hydrops fetalis syndrome. Homozygosity of β-thalassaemia results in a severe thalassaemic disease while the patients with compound heterozygosity, β-thalassaemia/Hb E, present variable severity of anaemia, and some can be as severe as homozygous β-thalassaemia. Concomitant inheritance of α-thalassaemia and increased production of Hb F are responsible for mild clinical phenotypes in some patients. However, there are still some unknown factors that can modulate disease severity in both α- and β-thalassaemias. Therefore, it is possible to set a strategy for prevention and control of thalassaemia, which includes population screening for heterozygotes, genetic counselling and foetal diagnosis with selective abortion of affected pregnancies.

A comparative study of hematological parameters of α and β thalassemias in a high prevalence zone: Saudi Arabia.

BACKGROUND AND AIMS: Saudi Arabia falls in the high prevalent zone of αα and β thalassemias. Early screening for the type of thalassemia is essential for further investigations and management. The study was carried out to differentiate the type of thalassemia based on red cell indices and other hematological parameters. MATERIALS AND METHODS: The study was carried out on 991 clinically suspected cases of thalassemias in Riyadh, Saudi Arabia. The hematological parameters were studied on Coulter STKS. Cellulose acetate hemoglobin electrophoresis and high-performance liquid chromatography (HPLC) were performed on all the blood samples. Gene deletion studies were carried out by restriction fragment length polymorphism (RFLP) technique using the restriction endonucleases Bam HI. STATISTICAL ANALYSIS: Statistical analysis was performed on SPSS 11.5 version. RESULTS: The hemoglobin electrophoresis and gene studies revealed that there were 406 (40.96%) and 59 (5.95 %) cases of β thalassemia trait and β thalassemia major respectively including adults and children. 426 cases of various deletion forms of α thalassemias were seen. Microcytosis was a common feature in β thalassemias trait and (-α/-α) and (--/αα) types of α thalassemias. MCH was a more significant distinguishing feature among thalassemias. β thalassemia major and α thalassemia (-α/αα) had almost normal hematological parameters. CONCLUSION: MCV and RBC counts are not statistically significant features for discriminating between α and β thalassemias. There is need for development of a discrimination index to differentiate between α and β thalassemias traits on the lines of discriminatory Indices available for distinguishing β thalassemias trait from iron deficiency anemia.

main non clinical risk factors of major thalassemia in Fars provin

Thalassemia major is one of the most common genetic blood disorders that passes from parents to children. Since Fars province is one of the most common locations of thalassemia in our country. It seems that the present study can be helpful by identifying main non-clinical factors of the disease. This cross sectional study was done on registered data of less than 12 year old major thalassemia patients in Fars province by census method in 1997-2010. Underlying causes of thalassemia are divided into three groups: S[1] cases due to hardware problems, S[2] cases due to parents carelessness without having a history, and S[3] patients born to parents who married when genetic tests were not routine. Data were analyzed by using SPSS 16 and ANOVA tests. Analysis showed that S[1] with 48 persons [15.38%] with the mean age of 5.6 +/- 3.2, S[2] with 71 persons [22.75%] with the mean age of 6.8 +/- 1.2, and S[3] with 193 person [61.85%] with the mean age of 8.8 +/- 3.30 were the main groups of thalassemia .The least incidence rate was 0.13 per 10000 in 2010. With identifying the main underlying causes of major thalassemia regardless of its main cause which is herediatry from parents, considering levels and different consequences of these causes, and high efficiency of genetic tests before marriage, effective steps can be taken to reduce health-social and economic problems of thalassemia

Frequency of iron deficiency anaemia and beta Thalassemia minor among adolescent school girls in Ahvaz, Iran

To investigate the frequency of causes of anaemia among adolescent school girls in Ahvaz in 2009. A cross-sectional study was conducted on 208 Adolescent girls aged 15-19 years from high schools in Ahvaz. Blood samples were taken from all patients and were sent to laboratory for determination of complete blood count [CBC] test, serum ferritin [SF], hemoglobin electrophoresis [Hb F, Hb A2] was done for all of the anaemic cases. Iron deficiency anaemia was defined as a situation where Hb is less than 12 g/dl and ferritin is less than 12 ng/ml. Beta-thalassemia were identified by high performance liquid chromatography [HPLC] analysis of hemoglobin and Hb A2>3.4. Of the 208 patients, 37 cases [17.8%] were anemic and Iron deficiency anaemia was found in only 11 from 208 children [5.3%], minor beta thalassemia was found in only five of 208 children [2.4%], mixed beta thalassemia and iron deficiency anaemia was found in four of 208 [1.9%] and other patient with anaemia 19 patient [9.1%] minor alpha thalassemia was considered, anybody of students were macrocytic anaemia. The results suggest that thalassemia and iron deficiency anaemia may be major contributing factors to the occurrence of anaemia in this area among schoolgirl population

[Lack of knowledge of being minor thalasemic is the main cause of major thalassemia incidence in Zahedan, the South-East of Iran]

Introduction: In spite of providing prenatal diagnoses [PND] procedures for Thalassemia, 148 new patients were added to the Thalassemic population of Zahedan from 2002 to 2010. This study aimed at identifying the occurrence causes of newly arrived Thalassemic patients

Methods: This retrospective descriptive study was carried out on 148 couples whose Thalassemic children were born after establishment of the PND center at 2002. The required data were collected using interviews and hospital records of the patients

Results: The results indicated that 81.6% of the parents of major cases had not undergone pre-marriage Thalassemia screening test. Also, 70.2% of the couples were not aware of their minor Thalassemia before having a Thalassemic child. Moreover, 71% of parents who had been diagnosed with minor Thallasemia did not attend the PND center due to lack of knowledge, late gestational age, husband's unwillingness, and lack of awareness about the importance of the problem. In addition, from the referred couples in the first stage, 50% did not come to the centre for second stage of diagnosis [sampling of the fetus] due to religious beliefs, husband's unwillingness, and mothers' ignorance

Conclusion: The results showed that the most important causes of new occurrences of Thalassemia include couples' refraining from taking pre-marriage Thalassemia screening tests and lack of knowledge about being minor thalassemic. Therefore, appropriate programs may hopefully reduce the new cases

Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and beta-thalassemia in Saudi Arabia

Saudi Arabia has a high prevalence of hereditary hemoglobin disorders. Data has been collected by the Saudi Premarital Screening and Genetic Counseling Program on the prevalence of sickle cell disease and beta-thalassemia but the outcomes were not quantified. We used six years of premarital screening data to estimate the burden of sickle disease and beta-thalassemia over the program period and to assess the frequency of at-risk marriage detection and prevention. Retrospective review, premarital couples attending premarital and genetic counseling clinics with marriage proposals between 2004 and 2009. Blood samples obtained from all couples with marriage proposals between 2004 and 2009 were tested for sickle cell disease and beta-thalassemia. Test results were shared with all examinees and genetic counseling was offered for all at-risk couples. Marriage certificates were issued irrespective of the results and compliance with medical advice was voluntary. Out of all men and women examined, 70962 [4.5%] and 29006 [1.8%] were carriers or cases of sickle cell disease and beta-thalassemia, respectively. While the prevalence of sickle cell disease was constant between 2004 and 2009 [average 45.1 per 1000 examined persons, P=.803], the prevalence of beta-thalassemia steadily decreased from 32.9 to 9.0 per 1000 examined persons [P<.001]. The frequency of at-risk couples decreased by about 60% between 2004 and 2009 [from 10.1 to 4.0 per 1000 examined persons, P<.001]. The frequency of voluntary cancellation of marriage proposals among at-risk couples showed more than 5-fold increase between 2004 and 2009 [from 9.2% to 51.9%, P<.001]. The eastern region had 58% of all detected at-risk marriages and showed the greatest decline in detection and increase in prevention over time compared to other regions of Saudi Arabia. Six years of premarital screening in Saudi Arabia markedly reduced the number of at-risk marriages, which may considerably reduce the genetic disease burden in Saudi Arabia in the next decades

Hemoglobin D [Hb D Punjab/ Los Angeles and Hb D Iran] and Co-Inheritance with Alpha- and Beta- Thalassemia in southern Iran

Hemoglobin-D [Hb D] is an uncommon structural hemoglobin variant, which is reported to be prevalent in north western India. There are only a few small series, of this entity in the literature. We report the largest single center experience on this entity from Iran. Between November 2002 and December 2010 as a result of screening premaritally for betathalassemia in Shiraz, Fars Province, Southern Iran, column chromatography, Hb electrophoresis, solubility test, and/or high performance liquid chromatography [HPLC], direct sequencing and restriction analysis were used for hemoglobinopathies and structural Hb variants. The data of 220 subjects with Hb D variants are analyzed in this report. These comprised of 180 carries of Hb D; 92 cases of Hb D Punjab/Los Angeles [beta 121[Glutamic acid -> Glutamine]] and 88 subjects with Hb D Iran [beta 22 [Glu- > Gln]], 3 homozygous cases for Hb D, 17 subjects with betathalassemia- Hb D, 12 with Hb D- alpha- thalassemia- 1, 3 homozygous Hb D- alpha thalassemia- 1 trait, one with Hb D Punjab - sickle cell anemia, and two with Hb D Iran/sickle cell anemia. The carriers of Hb D and homozygous cases for Hb D were not anemic and had normal red blood cell morphology, as they are not usually detected. If Hb D was inherited in combination with thalassemia, the subjects had mild anemia and in some of them, the spleen was palpable [1-2 cm]. Co-inheritance of alpha thalassemia and Hb D resulted in the slightly higher Hb level and lower Hb D level as compared to Hb D/ betathalassemia cases [Hb D 24-37% vs 57-88%]. Co inheritance of Hb D and sickle cell results was moderate to severe hemolytic anemia