Antenatal screening for thalassemia carrier at tertiary care centre

Background: Thalassemia syndromes are the commonest genetic disorders of blood and constitute a vast public health problem with 2.78 to 4% prevalence in India. The most effective and feasible approach to reduce the incidence of thalassemia major is implementation of carrier screening program to screen the antenatal women in early pregnancy.Methods: Institutional based cross sectional observational study was conducted. We screened 400 antenatal women by performing preliminary test red cell indices, Mentzer index and confirmatory test by high performance liquid chromatography. Husbands of positive women were also tested to find out couples on risk.Results: Out of 400 antenatal women screened, 46 required HbA2 estimation, and 11 (2.8%) were diagnosed as ?-thalassemia minor positive. Most of thalassemia minor positive women were primigravida and mean (SD) age and gestational age of these women was 23.8 (3.1) years and 11.8 (1.7) weeks, respectively. Amongst thalassemia minor positive women most were mild to moderately anemic and these women had significantly greater mean TRBC count. Ninety one percent of thalassemia minor positive women had MCV<77. All of thalassemia minor positive women had MCH<27. Eighty two percent of thalassemia minor positive women had MI<13. None of couple at-risk was detected. So, prevalence of thalassemia carrier was 2.8%.Conclusions: Thalassemia is a monogenetic disorder with autosomal recessive streak. Universal screening in antenatal window by complete blood counts, hematological indices (MCV, MCH, TRBC), Mentzer index and HPLC may lead to non-pyrrhic victory over this odious entity.

Antenatal screening for thalassemia carrier at tertiary care centre

Background: Thalassemia syndromes are the commonest genetic disorders of blood and constitute a vast public health problem with 2.78 to 4% prevalence in India. The most effective and feasible approach to reduce the incidence of thalassemia major is implementation of carrier screening program to screen the antenatal women in early pregnancy.Methods: Institutional based cross sectional observational study was conducted. We screened 400 antenatal women by performing preliminary test red cell indices, Mentzer index and confirmatory test by high performance liquid chromatography. Husbands of positive women were also tested to find out couples on risk.Results: Out of 400 antenatal women screened, 46 required HbA2 estimation, and 11 (2.8%) were diagnosed as ?-thalassemia minor positive. Most of thalassemia minor positive women were primigravida and mean (SD) age and gestational age of these women was 23.8 (3.1) years and 11.8 (1.7) weeks, respectively. Amongst thalassemia minor positive women most were mild to moderately anemic and these women had significantly greater mean TRBC count. Ninety one percent of thalassemia minor positive women had MCV<77. All of thalassemia minor positive women had MCH<27. Eighty two percent of thalassemia minor positive women had MI<13. None of couple at-risk was detected. So, prevalence of thalassemia carrier was 2.8%.Conclusions: Thalassemia is a monogenetic disorder with autosomal recessive streak. Universal screening in antenatal window by complete blood counts, hematological indices (MCV, MCH, TRBC), Mentzer index and HPLC may lead to non-pyrrhic victory over this odious entity.

Beta-Talasemia: Un mundo de complicaciones con nuevas alternativas de tratamiento / Beta-Thalassemia: A world of complications with new alternatives of treatment

Introducción: ß-talasemia, es causada por mutaciones en el gen de la globina HBB, que codifica la subunidad ß de la HbA. La enfermedad es conocida por ser altamente prevalente en el área que se extiende desde África subsahariana, a través de la región mediterránea y Medio Oriente. En Colombia, se han reportado varios estudios independientes de hemoglobinopatías en ciudades como Cartagena, Buenaventura, Cali, San Andrés y Providencia debido a su gran población afrodescendiente sobre la cual las Talasemias y otras hemoglobinopatías tienen incidencia directa. Objetivo: recolectar datos acerca de las características clínicas, complicaciones y clasificaciones de ß-talasemia con el fin de brindar una fuente de información que permita realizar un diagnóstico eficaz y en consecuencia un tratamiento que busque llegar a la curación completa de los pacientes que sufren esta condición, con el mínimo de complicaciones para los mismos. Conclusión: la ß-Talasemia es una hemoglobinopatía estructural que tiene un porcentaje de prevalencia e incidencia importante en el mundo. En Colombia no se tiene claro cuál es la epidemiología real para esta condición puesto que no se han realizado estudios que abarquen una muestra adecuada y significativa. Esta enfermedad genera múltiples complicaciones en diferentes órganos, que no solo están asociadas al desarrollo de la enfermedad, sino también a la terapia de trasfusión a largo plazo. Por esta razón, los nuevos tratamientos están encaminas a lograr en un futuro la curación completa, reduciendo al máximo las complicaciones..(AU)

Introduction: ß-thalassemia is caused by mutations in the HBB globin gene, which encodes the ß subunit of HbA. The disease is known to be highly prevalent in the area that stretches from sub-Saharan Africa, through the Mediterranean region and the Middle East. In Colombia, several independent studies of hemoglobinopathies have been reported in cities such as Cartagena, Buenaventura, Cali, San Andrés and Providencia due to their large Afro-descendant population on wich the thalassemias and other hemoglobinopathies.have direct incidence. Objective: to collect data about the clinical characteristics, complications and classifications of ß-thalassemia in order to provide a source of information that allows an effective diagnosis and a treatment that seeks to reach the complete cure of patients that have this condition. , with the minimum of complications for them. Conclusion: ß-thalassemia is a structural hemoglobinopathy that has a percentage of prevalence and incidence important in the world. In Colombia it is not clear what is the real epidemiology for this condition that has not been conducted studies that include an adequate and significant sample.This disease generates multiple complications in different organs, but not only in long-term transfusion therapy. For this reason, the new treatments are aimed at achieving complete healing in the future, minimizing complications at maximum..(AU)

Value of Cell Counter-Based Parameters and Formulas in Detection of βThalassemia Minor, the experience of a single Haematological Centre in Iraq

Background: Anemia which is associated with poor maternal and perinatal outcome, is the most common medical disorderand a risk factor in pregnancy causing 20-40% of maternal deaths directly or indirectly through cardiac failure,preeclampsia, antepartum haemorrhage, postpartum haemorrhage and puerperal sepsis. Aim: The study is aimed atevaluating knowledge, attitude and practices regarding prevention of iron deficiency anemia among pregnant womenattending primary health centers in Tabuk region. Methods: Descriptive design was utilized to fulfill the aim of this study.The study was conducted at eight health centers at Tabuk region. A purposive sample (N= 300) of pregnant women whoattended the eight health centers at Tabuk region for receiving antenatal care was included in the study. Three tools of datacollection were used; 1) self-administrated questionnaire: It includes socio-demographic data, obstetric and health historyand knowledge assessment 2) modified likert scale: to assess the attitudes of pregnant women with regard to anemiaprevention. 3) Practice items: to assess practice of pregnant women to prevent iron deficiency anemia. Results: The findingsrevealed that 25.0% of the pregnant women had history of anemia before pregnancy, 66.7% % of them had poor knowledge,and 70.0 % of them had neutral attitude toward iron deficiency anemia. And 40.0 % of them obtained poor practices scoreregarding prevention of iron deficiency anemia. Conclusion: The majority of pregnant women in Tabuk Region have poorknowledge, neutral attitude and poor practices regarding prevention iron deficiency anemia.

Identificación de &-talasemia en anemias microcíticas hipocrómicas refractarias al tratamiento con hierro en Nicaragua / Identification of &-thalassemia in hypochromic microcytic anemias refractory to iron treatment in Nicaragua

Resumen Justificación y objetivo: gran parte de los casos descritos de anemias microcíticas-hipocrómicas corresponden a anemias ferropénicas y síndromes talasémicos. El diagnóstico diferencial se complementa con pruebas de laboratorio como el hierro sérico, ferritina, entre otras; sin embargo, estas son de baja disponibilidad en países en vías de desarrollo. En Nicaragua, el diagnóstico de estas patologías se basa en el historial clínico y análisis hematológicos de rutina. El objetivo de este trabajo fue la implementación de la técnica de cuantificación de hemoglobina A2 en el diagnóstico clínico de β-talasemia. Métodos: se realizó un estudio transversal con 30 pacientes que mostraban microcitosis e hipocromía después de 3 meses de tratamiento con sales de hierro. Se realizó electroforesis de hemoglobina y se utilizó el kit de la casa comercial Beta-Thal HbA2 Quik Column para cuantificar la hemoglobina A2 en cada paciente. El análisis estadístico utilizado fue la prueba de t de student. Se consideraron significativas las diferencias a p<0,05. Esta investigación respetó los principios éticos que conciernen. Se contó con la aprobación del Comité de Ética Institucional, UNAN-Managua. Los participantes dieron su consentimiento informado. Resultados: al aplicar el método para cuantificación de hemoglobina A2, se obtuvo que el 67 % de las muestras presentaron una concentración de hemoglobina A2 mayor al valor de referencia establecido (3,3 %), siendo pacientes diagnosticados para β-talasemia menor. El 33 % restante presentó valores normales de hemoglobina A2 con microcitosis e hipocromía. Se encontraron diferencias estadísticamente significativas entre las medias de glóbulos rojos, volumen corpuscular medio, hemoglobina corpuscular media y hemoglobina A2, entre ambos grupos. Conclusión: el diagnóstico diferencial de anemias microcíticas hipocrómicas refractarias al tratamiento con hierro, se realiza inicialmente por el historial clínico del paciente, pero es necesario contar con pruebas diagnósticas como la cuantificación de hemoglobina A2 que permitan identificar las diversas patologías que cursan con microcitosis e hipocromía.

Abstract Justification and objective: much of the described cases of microcytic-hypochromic anemias are ferropenic anemias and Thalassemia syndromes. The differential diagnosis is complemented by laboratory tests as serum iron, ferritin, among others; However, these are of low availability in developing countries. In Nicaragua, the diagnosis of these diseases is based on clinical history and routine blood analysis. The objective of this work was to implement a technique for quantification of hemoglobin A2 in the clinical diagnosis of β-Thalassemia. Methods: We conducted a cross-sectional study with 30 patients showing hypochromia and microcytosis after 3 months of treatment with iron salts. Hemoglobin electrophoresis was performed, a kit from Beta-Thal HbA2 Quik Column was used to quantify the hemoglobin A2 in each patient. The statistical analysis used was the student's t test. The differences were considered significant at p < 0.05. This research respected ethical principles that concern. It had the approval of the committee of ethics institutional, UNAN-Managua and the participants gave their informed consent. Results: when applying the method for quantification of hemoglobin A2, 67% of samples presented a concentration of hemoglobin A2 greater than the reference value set at 3.3%, these patients were diagnosed with β-Thalassemia minor. The remaining 33% presented normal values of hemoglobin A2 with hypochromia and microcytosis. Statistically significant differences between the averages of red blood cells, mean corpuscular volume, mean corpuscular hemoglobin and hemoglobin A2 between the two groups was observed. Conclusion: The differential diagnosis of microcytic hypochromic anemias refractory to treatment with iron, is initially performed by the clinical history of the patient, but it is necessary to have diagnostic tests such as the quantification of hemoglobin A2, which allow the identification of patients with β-Thalassemia minor within this group. In our study 67% of the studied samples were identified as β-Thalassemia minor.

2 Cases of Beta-thalassemia Minor in Korea / 임상소아혈액종양

In Korea, recent epidemiologic studies show that the incidence of β-thalassemia is increasing as the influx of South-East Asian population increases and molecular technologies develop. However, many patients are still misdiagnosed as iron deficiency anemia (IDA). All patients with microcytic anemia need to perform evaluation including reticulocyte index, Mentzer index, and iron studies. Considering the increasing incidence of β-thalassemia, hemoglobin beta globulin (HBB) gene sequencing should be performed if suspicious. In our cases, patients whose parents were both Koreans were confirmed to have β-thalassemia with a substitution in c1, ATG>GTG, and deletion of the HBB gene. In Korea, initiation condon ATG>AGG (20.9%) is most common mutation, followed by codon 17 (A>T) (17.6%), codon 121 (G>T) (12.1%), and so on. We report two cases of β-thalassemia diagnosed by genetic testing for microcytic anemia.

2 Cases of Beta-thalassemia Minor in Korea / 임상소아혈액종양

In Korea, recent epidemiologic studies show that the incidence of β-thalassemia is increasing as the influx of South-East Asian population increases and molecular technologies develop. However, many patients are still misdiagnosed as iron deficiency anemia (IDA). All patients with microcytic anemia need to perform evaluation including reticulocyte index, Mentzer index, and iron studies. Considering the increasing incidence of β-thalassemia, hemoglobin beta globulin (HBB) gene sequencing should be performed if suspicious. In our cases, patients whose parents were both Koreans were confirmed to have β-thalassemia with a substitution in c1, ATG>GTG, and deletion of the HBB gene. In Korea, initiation condon ATG>AGG (20.9%) is most common mutation, followed by codon 17 (A>T) (17.6%), codon 121 (G>T) (12.1%), and so on. We report two cases of β-thalassemia diagnosed by genetic testing for microcytic anemia.

Avaliação de variantes do gene TMPRSS6 e sua relação com o status de ferro em condições de eritropoese normal e aumentada / Evaluation of TMPRSS6 genetic variants and its relationship with iron status of women with normal and increased erythropoiesis

Introdução: A deficiência de ferro é frequente entre mulheres na idade reprodutiva e é considerada problema de saúde pública mundial. Por outro lado, patologias associadas com aumentada atividade eritropoética e sobrecarga de ferro, como as talassemias e a anemia falciforme, estão entre as doenças monogênicas mais frequentes em muitas populações. Os genes HFE e TMPRSS6 codificam as proteínas hemocromatose hereditária (HFE) e matriptase-2 (MT2) que, no fígado, modulam a produção de hepcidina, o hormônio regulador central do metabolismo de ferro. O objetivo deste estudo foi avaliar a relação entre o consumo alimentar de ferro, as variantes rs855791 (MT2736V), rs4820268 (MT2521V), rs1799945 (HFE63D) e rs1800562 (HFE282Y) e o status corporal do mineral entre mulheres com atividade eritropoética normal (aparentemente saudáveis) ou levemente aumentada (com ß-talassemia menor). Casuística e métodos: Inicialmente, foram incluídas 127 estudantes universitárias na idade reprodutiva (18 a 42 anos) e em aparente balanço estacionário do ferro corporal (necessidades fisiológicas e consumo alimentar de ferro pouco variáveis há pelo menos 12 meses). Em um segundo estudo, foram incluídos 33 casos de ß-talassemia menor (18 na pós-menopausa), registrados em serviços de hematologia de dois hospitais de São Paulo-SP e um de Sorocaba-SP. Essas foram pareadas com 66 controles, segundo idade, índice de massa corporal, status reprodutivo e uso de anticoncepcionais hormonais. A partir de inquéritos feitos com registros alimentares ou recordatórios de 24 horas foi estimado o consumo de ferro total e biodisponível. Amostras de sangue foram utilizadas para a extração de DNA e determinações de ferritina sérica, saturação da transferrina e hemoglobina. As genotipagens do TMPRSS6 e do HFE foram realizadas por PCR em tempo real. Resultados: Considerando as 226 mulheres avaliadas, as frequências dos alelos MT2736V, MT2521D, HFE63D e HFE282Y foram estimadas em 40,3%, 44,0%, 16,3% e 1,5% respectivamente. No primeiro estudo, foi estimada média de consumo de ferro 10 de 10,9 mg/dia e prevalência de deficiência do mineral de 12,6%. Estimativas de consumo de ferro biodisponível, mas não de ferro total, foram correlacionadas com os valores de ferritina e saturação da transferrina. As associações entre a biodisponibilidade dietética de ferro e seus biomarcadores foram especialmente evidentes entre as carreadoras da variante HFE63D, indicando uma significante interação gene-nutriente. Por outro lado, valores relativamente menores de saturação da transferrina foram associados à presença do alelo MT2736V, independentemente do consumo de ferro biodisponível. Mulheres com ß-talassemia menor e suas controles não diferiram quanto à frequência das variantes TMPRSS6 e HFE ou à biodisponibilidade dietética de ferro. Na pós-menopausa, a ß-talassemia menor foi associada com valores duas vezes maiores de ferritina, 20% maiores de saturação da transferrina e com probabilidade 3,5 vezes maior de hiperferritinemia. Entretanto, para casos e controles na idade reprodutiva, foi estimada probabilidade de inadequação do consumo de 20,7% e prevalências de deficiência do mineral de 13,3% e 10,0%, respectivamente. Entre essas mulheres, o genótipo positivo ou negativo para a variante MT2736V foi também associado com diferenças nas médias de saturação da transferrina. No entanto, o contraste nesses valores foi relativamente maior entre as mulheres com ß-talassemia menor. Além disso, mais acentuada hipocromia acompanhou a presença da variante MT2736V nessa condição. Conclusão: Os achados sugerem que, entre mulheres com eritropoese normal ou com ß-talassemia menor, a variante MT2736V não afeta tão fortemente as reservas de ferro corporal como faz a adequação do consumo desse mineral. Ainda assim, a variante HFE63D pode modificar a relação da biodisponibilidade de ferro com seu status corporal e, portanto, ser um importante marcador preditivo de resposta diferencial à dieta. A variante MT2736V foi associada com menor disponibilidade de ferro na circulação de mulheres na idade reprodutiva e, entre aquelas com ß.;-talassemia menor, com indício de acentuada alteração morfológica dos eritrócitos

Introduction: Iron deficiency is common among women at childbearing age and it is regarded as a worldwide public health issue. On the other hand, disorders associated with increased erythropoietic activity and iron overload, such as thalassemias and sickle cell disease, are among the most frequent Mendelian diseases in many populations. HFE and TMPRSS6 genes encode the hereditary hemochromatosis protein (HFE) and the matriptase-2 (MT2) both of which modulate the hepatic production of hepcidin, the main hormone regulator of iron metabolism. The aim of this study was to evaluate the relationship among dietary iron intake, rs855791 (MT2736V), rs4820268 (MT2521D), rs1799945 (HFE63D) and rs1800562 (HFE282Y) genetic variants and body iron status of women with normal (apparently healthy) or slightly increased (ß-thalassemia minor) erythropoietic activity. Casuistic and methods: Initially, 127 university students at childbearing age (18 to 42 years old) and with steady state body iron (few variations on physiological requirements and dietary iron intake at least for the last 12 months) were included. In a second study, it was included 33 cases of ß-thalassemia minor (18 of them post-menopaused) registered in Hematology Services from two hospitals from São Paulo-SP and one from Sorocaba-SP. They were paired with 66 controls by age, body mass index, reproductive status and hormonal contraceptive use. Using food diaries or 24 hours food recalls, total and bioavailable dietary iron intakes were estimated. Blood samples were used for DNA extraction and for determinations of ferritin, transferrin saturation with iron and hemoglobin. TMPRSS6 and HFE genotyping were performed by real time PCR. Results: Considering all the 226 women studied, the allelic frequencies of MT2736V, MT2521D, HFE63D e HFE282Y genetic variants were em 40.3%, 44.0%, 16.3% e 1.5%, respectively. In the first study, a total dietary iron intake of 10.9 mg/day and an iron deficiency prevalence of 12.6% were estimated. There were correlations among ferritin and transferrin saturation values with estimates of bioavailable, but not of total dietary iron intake s. Associations between dietary iron bioavailability and iron biomarkers were especially evident among carriers of HFE63D variant, indicating a significant gene-diet interaction. On the other hand, lower levels of transferrin saturation were associated with the presence of MT2736V variant allele, irrespective of bioavailable iron intake. TMPRSS6 and HFE variants frequencies and dietary iron bioavailability estimates did not differ between women with ß-thalassemia minor and their controls. Among postmenopausal women, ß-thalassemia minor was associated with two times higher ferritin values, 20% higher transferrin saturation values and 3.5 times higher chance for hiperferritinemia. However, among cases and controls at childbearing age, it was estimated a probability of inadequacy in the dietary iron intake of 20.7% and iron deficiency prevalences of 13.3% and 10.0%, respectively. Among these women, a positive or negative genotype for MT2736V was also associated with differences in transferrin saturation. Nevertheless, the contrast between these values was relatively higher among women with ß-thalassemia minor. Moreover, a more accentuated hypochromia accompanied the presence of the MT2736V variant in this condition. Conclusions: Our findings suggest that, among women with normal erythropoiesis or ß-thalassemia minor, the presence of the MT2736V variant does not strongly impact the body iron stores as does dietary iron adequacy. Nevertheless, the HFE63D variant may modify the relationship between the dietary iron bioavailability and the body iron status. Therefore, it might be an important predictive marker of women's differential response to diet. The MT2736V variant was associated with lower availability of circulating iron in women at childbearing age and, among those with ß-thalassemia minor, with suggestive accentuated morphological alteration of erythrocytes

The Impact of Iron Deficiency on HBA2 Level in Beta Thalassemia Minor in Sulaimani Northeastern Iraq.

Background: HbA2 plays a key role in screening programs for beta thalassemia because a small increase in this fraction is the most important marker of beta thalassemia heterozygous carriers. The potential impact of coincident iron deficiency on HbA2 based identification of beta thalassemia minor is worrisome issue for screening laboratories, this is especially true for resource-constrained settings where iron deficiency is wide spread and molecular confirmatory tests for borderline HbA2 values may be unavailable. Objective: the aim of this study is to evaluate the effect of iron deficiency on HbA2 level in order to improve the detection of beta thalassemia trait with or without iron deficiency in our population. Materials and Method: In this study 145 individuals were enrolled including normal controls (50), beta thalassemia minor (50) and coincident beta thalassemia with iron deficiency cases (45). Complete blood count, serum iron, total iron binding capacity and HbA2 with HbF estimation were done for every individual. Result: The mean HbA2 level was (2.4± 0.4) in control, (5.2 ± 0.9) in beta thalassemia minor and 5.1± 0.9 in coincident iron deficiency with beta thalassemia minors. All hematological parameters were significantly lower in beta thalassemia minor and coincident iron deficiency with beta thalassemia minor in comparison to the control group .Mean HbA2 level did not show a significant difference in thalassemia minor (5.2±0.9) when compared with the mean HbA2 levels in coincident iron deficiency with beta thalassemia minor. Conclusion: The presence of iron deficiency did not preclude the detection of beta thalassemia minor in our population.

Role of iron deficiency anemia in the propagation of beta thalssemia gene

BACKGROUND: The diagnostic criterion for beta thalassemia trait (BTT) is elevated Hb-A2 levels. Iron deficiency anemia (IDA) reduces the synthesis of Hb-A2, resulting in reduced Hb-A2 levels, so patients with co-pathological conditions BTT with IDA, may have a normal level of Hb-A2. Many socio-economic factors like unawareness, poor diagnostic facilities, and cost of molecular diagnosis (for screening purposes) result in interpretation of these subjects as normal. METHODS: Venous blood samples from 200 unmarried females having a family history of thalassemia were collected, and basic hematological parameters, hemoglobin electrophoresis, and molecular analysis for beta thalassemia were done. Patients with IDA and patients with co-pathological conditions BTT and IDA were treated with oral iron. These subjects were then followed for a period of 20 weeks. RESULTS: Of the 200 females, 34 were found to be anemic. Hemoglobin electrophoresis identified 16 of these patients as BTT. Molecular analysis of all patients confirmed this diagnosis, but identified 8 additional patients with BTT. Eight patients that were not detected with hemoglobin electrophoresis were found to have co-pathology of BTT with IDA. CONCLUSION: Patients with the co-pathological condition BTT with IDA may be interpreted as being normal, as they have normal Hb-A2 levels. These misdiagnosed subjects when marry with BTT have the potential to produce beta thalassemia major in offspring. This is one of the factors playing a major role in the propagation of beta thalassemia gene in Pakistani population, and become a serious hindrance for the thalassemia prevention program in Pakistan.

Índice de anisocitose eritrocitária (RDW): diferenciação das anemias microcíticas e hipocrômicas / Red blood cell distribution width (RDW): differentiation of microcytic and hypochromic anemias

A anemia ferropriva, talassemia menor e anemia de doença crônica são as anemias microcíticas e hipocrômicas mais comuns em nosso meio. O diagnóstico diferencial das referidas anemias é de grande importância clínica; contudo, muitas vezes é complexo em virtude de concomitância de doenças, além de demandar tempo e apresentar custos significativos. Com o propósito de conferir maior simplicidade e eficiência ao diagnóstico diferencial destas anemias, o uso de índices derivados de modernos contadores automáticos tem sido sugerido. Entre estes, pode ser citado o índice de anisocitose eritrocitária (RDW), que indica o grau de variabilidade do tamanho das hemácias. Neste estudo, o poder de discriminação deste índice quanto ao tipo de anemia microcítica e hipocrômica foi avaliado em um grupo de 159 pacientes sabidamente portadores de um quadro de anemia causado por deficiência de ferro, beta talassemia menor ou uma anemia de doença crônica. Não foi observada diferença significativa para o RDW entre os três grupos de anemias microcíticas, indicando não ser este índice uma ferramenta útil para a diferenciação entre anemia ferropriva, beta talassemia menor e anemia de doença crônica.

Iron deficiency anemia, the thalassemia trait and chronic disease anemia are the most common microcytic and hypochromic anemias in the Brazilian population. Differential diagnosis of these anemias is of great clinical importance however, frequently, it is complex due to coexistence of diseases, as well as being time consuming and expensive. In order to simplify and increase efficiently of checking the differential diagnoses of these anemias, the use of indexes derived from modern blood cell counters has been suggested. Among them, is the index called red blood cell distribution width which indicates the variability in red blood cell size. In this study, the discriminative power of the red blood cell distribution width in differentiating microcytic and hypochromic anemias was evaluated in a group of 159 patients diagnosed as carriers of either iron deficiency anemia, â-thalassemia minor or chronic disease anemia. No difference was found for the red blood cell distribution width among the three groups of microcytic and hypochromic anemias indicating that this index is not a useful tool to distinguish among iron deficiency, â-thalassemia minor and chronic disease anemia.

Perfil hematológico de la beta-talasemia menor en Tucumán / Hematological profile of beta-thalassemia minor in Tucuman

La b-talasemia menor es uno de los desórdenes genéticos más comunes y constituye la principal causa de anemia hereditaria. Si se exceptúan las provincias de Buenos Aires y Santa Fe, es escasa la información bibliográfica acerca de la distribución de la talasemia en la Argentina. Dado que no existen registros sobre el perfil hematológico de la b-talasemia en la región noroeste de la Argentina, el propósito del presente trabajo fue realizar un estudio exploratorio descriptivo de las características hematológicas y electroforéticas de una población de la provincia de Tucumán portadora de b-talasemia. Se estudiaron 52 pacientes derivados para investigación de síndrome talasémico. Se realizó hemograma, reticulocitos, ferremia, electroforesis de hemoglobina, dosaje de hemoglobinas F y A2. En el 46% de los pacientes se confirmó el diagnóstico de rasgo b-talasémico, detectándose leve anemia con microcitosis y Hb A2 aumentada. El estudio del perfil hematológico no demostró diferencias significativas con respecto a edad y sexo y fue similar a lo ya publicado por otros autores. Según el origen étnico, la población estudiada estuvo constituida por un 58% de individuos de origen italiano, 34% de españoles y 8% de árabes, con predominio de la población italiana, similar a trabajos previos en la Argentina.

The b-thalassemia minor is one of the most common genetic blood disorder and it represents the main cause of hereditary anemia. There is scant information in the scientific literature about b-thalassemia minor distribution in Argentina, except for the provinces of Buenos Aires and Santa Fe. There is no published study of this disorder in the northwest of Argentina. The objective of this descriptive and explorative study is to determine the hematological and electrophoretic characteristics of a b-thalassemia minor population in the province of Tucumán. A total of 52 patients with suspected thalassemia syndrome were studied; haemogram, reticulocytes, serum iron, hemoglobin electrophoresis, hemoglobin F and hemoglobin A2 were performed. Forty-six percent of the patients presented a b-thalassemia minor diagnosis, with the following findings: mild anemia with microcytosis and elevated Hb A2. The hematological profile showed no significative differences with respect to age and sex, and it was similar to previous studies, published by different authors. The ethnic origins were as follow: Italians 58%, Spaniards 34% and Arabians 8%, with preponderance of the Italian population, similar to previous studies in Argentina.

A Case of Familial beta-thalassemia Minor

Thalassemias are a diverse group of inherited anemias that are characterized by defective synthesis of one or more globin chains. The thalassemias are classified according to the globin chain or chains the synthesis of which is deficient : alpha-, beta-, delta beta-, delta-, and gamma delta beta- Thalassemia. They are common in the Mediterranean region, The Middle East, India, Burma, and Southeast Asia. Beta-thalassemia minor, the heterozygous state, is most frequently characterized by hypochrmia, microcytosis and an elevated percentage of hemoglobin A2. We experienced a case of a familial beta-thalassemia minor in pneumonia patient and his family.

A family case of beta-thalassemia minor and hemoglobin Queens: alpha 34 (B15) Leu-Arg

We report a Korean family case of beta-thalassemia minor and Hb Queens. This is the first case report of Hb Queens in Korea. A 43-year-old male and his four family members had beta-thalassemia minor which is very rare in Korea. Incidentally, an alpha chain variant with a high isoelectric point was also found in two other family members without clinical problems and was finally identified as alpha 34 (B15) Leu-Arg or Hemoglobin Queens.