Diagnostic Cut-Off Value of RDW for Screening Thalassemia and the Combined Determination of MCV, MCH, HBA / 中国实验血液学杂志

OBJECTIVE@#To explore the value of red cell distribution width (RDW), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin (Hb) A2 combined determination scheme for screening thalassemia.@*METHODS@#The RDW levels of thalassemia group and healthy control group were detected and compared. The efficiency of RDW for screening thalassemia was evaluated by receiver operating characteristic (ROC) curve. The diagnostic cut-off value of RDW was also acquired by Youden index. Then, 3 groups for thalassemia screening scheme were set, including MCV+MCH+HBA @*RESULTS@#The RDW level in thalassemia group was significantly higher than that in healthy control group (P15.15, when the Youden index was the biggest among all data. The sensitivity, specificity, positive predictive value, negative predictive value, false negative rate and consistency rate of MCV+MCH+RDW(>15.15)+HBA @*CONCLUSION@#The diagnostic cut-off value of RDW for thalassemia screening has been established. The group of MCV(<82.0 fl)+MCH(<27.0 pg)+HBA

Manifestações orofaciais associadas aos diferentes tipos de anemias / Orofacial manifestations associated with different types of anemia

Introduction: Anemias correspond to hematological disorders that can present in the oral cavity and face. Objective: To review the literature on the main types of anemic disorders and their orofacial manifestations, considering the aspects of interest to dentists. Methodology: This is a literature review, in which articles were selected in Portuguese and English, indexed in the Scielo, Medline/Pubmed and Lilacs databases with the descriptors: Anemia, Oral Manifestations, Jaw Abnormalities and their correspondents in Portuguese language. Literature review: Anemic disorders associated with orofacial signs and symptoms include mainly Iron-Deficiency, Megaloblastic, Fanconis, Sickle Cell, Thalassemia and Aplastic Anemia. The manifestations vary from burning and painful symptoms in the tongue, pallor of lips and mucosa, stomatitis, atrophic glossitis, angular cheilitis, susceptibility to candidiasis and peri-odontal disease. Also, dental changes, hyposalivation, malocclusion, osteomyelitis of the jaw, paraesthesia of the mental nerve and orofacial pain are included. Conclusion: These manifestations can be the first signs of the presence of anemia, which gives the dentist an important role in early diagnosis and proper management of dental treatment.

Introdução: As anemias correspondem a distúrbios hematológicos que podem apresentar manifestações na cavidade oral e face. Objetivo: Revisar a literatura acerca dos principais tipos de distúrbios anêmicos e suas manifestações orofaciais, considerando os aspectos de interesse aos cirurgiões-dentistas. Metodologia: Trata-se de uma revisão de literatura, em que foram selecionados artigos em português e inglês, indexados nas bases de dados do Scielo, Medline/Pubmed e no Lilacs, com os descritores: Anemia, Oral Manifestations, Jaw Abnormalities e seus correspondentes na língua portuguesa. Revisão de literatura: Os distúrbios anêmicos associados aos sinais e sintomas orofaciais incluem principalmente a Anemia Ferropriva, Megaloblástica, de Fanconi, Falciforme, Talassemia e Anemia Aplástica. As manifestações variam de ardência e sintomatologia dolorosa em língua, palidez de lábios e mucosa, estomatite, glossite atrófica, queilite angular, suscetibilidade a candidíase e doença periodontal. Ainda, englobam-se as alterações dentárias, hipossalivação, má oclusão, osteomielite da mandíbula, parestesia do nervo mental e dor orofacial. Conclusão: Essas alterações podem ser os primeiros sinais da presença da anemia, o que confere ao cirurgião-dentista um importante papel no seu diagnóstico precoce e condução adequada ao tratamento odontológico.

A new index to discriminate between iron deficiency anemia and thalassemia trait

BACKGROUND: The most common microcytic and hypochromic anemias are iron deficiency anemia and thalassemia trait. Several indices to discriminate iron deficiency anemia from thalassemia trait have been proposed as simple diagnostic tools. However, some of the best discriminative indices use parameters in the formulas that are only measured in modern counters and are not always available in small laboratories. The development of an index with good diagnostic accuracy based only on parameters derived from the blood cell count obtained using simple counters would be useful in the clinical routine. Thus, the aim of this study was to develop and validate a discriminative index to differentiate iron deficiency anemia from thalassemia trait. METHODS: To develop and to validate the new formula, blood count data from 106 (thalassemia trait: 23 and iron deficiency: 83) and 185 patients (thalassemia trait: 30 and iron deficiency: 155) were used, respectively. Iron deficiency, ß-thalassemia trait and a-thalassemia trait were confirmed by gold standard tests (low serum ferritin for iron deficiency anemia, HbA2 > 3.5% for ß-thalassemia trait and using molecular biology for the a-thalassemia trait). RESULTS: The sensitivity, specificity, efficiency, Youden's Index, area under receiver operating characteristic curve and Kappa coefficient of the new formula, called the Matos & Carvalho Index were 99.3%, 76.7%, 95.7%, 76.0, 0.95 and 0.83, respectively. CONCLUSION: The performance of this index was excellent with the advantage of being solely dependent on the mean corpuscular hemoglobin concentration and red blood cell count obtained from simple automatic counters and thus may be of great value in underdeveloped and developing countries.

Prevalence, Geographical Distribution, Social Problems and Treatment of Thalassemia Patients.

A total of 700 beta thalassemia patients were gathered at the outdoor of the Hematology department of Medical College, Kolkata, attending during the period from January 2010 to December 2010. The data is generated by the interaction between them and their family members in presence of the physicians. Actual ethnic identities, place of residence, parity and sibship together with social stigma, if any, faced by the patient or by the member of the family and details of their treatment including transfusion history were noted down and reconfirmed from past records. The prevalence of thalassemia was found 70% among Hindus of which the 62.26% was contributed by castes like Maishya, Namasudra, Barga Kshatriya and Panda Kshatriya. The relative prevalence of subtypes of b-thalassemia was found to be 65% E-b thalassemia, 30% Homozygous b-thalassemia and 5% S-b thalassemia. The aboard of the 85.28% patients were found to be localised along banks river Hooghly and Ganga delta region and we can thus consider tentatively that this belt is a thalassemia zone in West Bengal. The maximum number of cases showed parity to be 1 and there was considerable amount of reproductive wastage. Regarding social stigma, 82.71% responded with no stigma. Early diagnosis and early onset of transfusion with chelation therapy was found to provide benefit for the patient reducing the total amount of transfusion needed per year and also restoring the quality of their life.

Epidemiological study of the patients referred for thalassemia diagnosis using chorionic villous sampling [CVS] in genetic laboratory of Dastgheib hospital, Shiraz, 2011

Pre-natal diagnosis is the most effected way to prevent genetic diseases in a society. The aim of this research was to show the prevention level of the birth of the children with major thalassemia disorder and the demographic condition of the people referring to the Shahid Dastgheib Genetic Center in Shiraz for the pre natal diagnosis. The present research was a cross- sectional [descriptive, analytical] one. In this study, the amount of sampling was done by census in a way that all the case [372 cases] related to the year 2010. The questionnaire was prepared based on the information present in the files. In order to compare the quantitative and qualitative variables, two sample t - test and K sample t- test were used. Out of 372 fetuses tested, 25.5% had major thalassemia, 48.7% minor thalassemia, 0.8% intermediate, 1.3% sickle cell, and 23.7% were healthy. All the cases diagnosed with thalassemia were introduced for abortion, and abortion was carried out. Major thalassemia was more prevalent in Lore tribes [32.9%], which was more in comparison to the members of others tribes. In order to prevent major thalassemia, it is important to identify the gene carriers and prevent their marriage. Nevertheless, in many places in the country, especially in the villages and rural areas, the couples do the experiment after they have already gotten emotionally involved and made the arrangements to get married; therefore they're unwilling to stop the marriage. As a result, post-nuptial CVS during pregnancy is crucial

Haemoglobinopathies in Greece: prevention programme over the past 35 years.

At present, prevention of thalassaemia and sickle cell disease is the only realistic approach to control the birth of new patients in countries having high numbers of carriers. This is fully justified because avoiding the birth of an ever increasing number of patients may allow a more effective use of the available resources in improving the management of the patients surviving today and alleviate the already overloaded public health system from the inevitable tremendous and ever increasing cost. Moreover, prenatal diagnosis may help couples at risk to have non-thalassaemic children. Greece is one of the countries where the mean frequency of carriers is approximately 7.5 per cent (population 11 million) and has set up a nationwide programme for carrier identification in the early seventies; this is provided through a dozen of specific Units attached to the major Blood Transfusion Services of the country, on a voluntary basis and free of charge. Spread of information through mass media, the schools, and other groups has greatly contributed in creating the necessary sensitization; obstetricians and antenatal Clinics are also instrumental to this effect. Prenatal diagnosis is offered centrally (Athens) and covers satisfactorily the estimated needs (500-600 annually); the total number has already exceeded 35,000. According to information obtained from the major paediatric hospitals all over the country, the number of thalassaemia major or SCD admitted for treatment over the last ten years has been around 15 yearly (instead of an estimate of 120-130).

Past, present & future scenario of thalassaemic care & control in India.

The first case of thalassaemia, described in a non-Mediterranean person, was from India. Subsequently, cases of thalassaemia were documented in all parts of India. Centres for care of thalassaemics were started in the mid-1970s in Mumbai and Delhi, and then in other cities. The parent's associations, with the help of International Thalassemia Federation, greatly helped in improving the care of thalassaemics. Obtaining blood for transfusion was difficult, but the Indian Red Cross Society and the parent's associations played a crucial role in arranging voluntary donations of blood. Chelation with deferoxamine was used sparingly due to the high cost. The Indian physicians conducted trials with deferiprone, and the drug was first approved and marketed in India. Deferasirox is also now being administered. Studies of physical and pubertal growth documented significant retardation, suggesting that generally patients receive inadequate chelation and transfusions. Bone marrow transplantation is available at a number of centres, and cord blood stem cell storage facilities have been established. Information about mutations in different parts of India is available, and ThalInd, an Indian database has been set up. There is a need to set up preimplantation genetic diagnosis and non-invasive prenatal diagnosis. It is argued that too much emphasis should not be placed on premarital screening. The focus should be on screening pregnant women to yield immediate results in reducing the burden of this disorder. Care of thalassaemia has been included in the 12th 5-year Plan of the Government of India. Many States now provide blood transfusions and chelation free of cost. Although inadequacies in care of thalassaemia remain, but the outlook is bright, and the stage is set for initiating a control programme in the high risk States.

O laboratório clínico na investigação dos distúrbios da hemoglobina / The clinical laboratory in the investigation of hemoglobin disorders

As alterações na síntese da hemoglobina resultam em um grupo de distúrbios hereditários, os quais podem ser classificados como hemoglobina variante, se a alteração tiver origem em uma mutação no gene da hemoglobina, produzindo cadeias anormais, ou como talassemias, se a estrutura é normal, porém a síntese ocorre em quantidade alterada. Este trabalho tem como objetivo descrever a condução do diagnóstico laboratorial de quatro casos de distúrbios da hemoglobina, a fim de ilustrar o papel do laboratório e discutir o papel do patologista clínico como elemento de elo entre a clínica e o laboratório no processo de elucidação diagnóstica.

Defective synthesis of hemoglobin gives rise to a group of hereditary disorders. If the defect arises from a genetic mutation producing abnormal protein chains, the condition is classified as hemoglobin variant. Whereas, if the structure is normal but the synthesis is reduced, they are denominated as thalassaemia. This article aims to describe the laboratory diagnostic approach in four cases of hemoglobin disorders in order to illustrate the role of laboratories and discuss the role of clinical pathologists as a link between physicians and laboratories in diagnostic clarification.

Avaliação da função diastólica em portadores de talassemia major / Diastolic function in patients with thalassemia major

Portadores de talassemia major (TM) permanecem assintomáticos e com funções ventriculares preservadas por longo tempo, porém, duas condições básicas podem ser responsáveis pelo comprometimento da função cardíaca nesse indivíduos, a anemia e a hemocromatose. Recentes avanços na ecocardiografia possibilitaram a utilização dessa técnica para a identificação precoce de disfunção ventricular secundária à hemocromatose. Além disso, esse exame constitui instrumento valioso para o acompanhamento evolutivo de pacientes, permitindo comparações de variáveis estruturais e funcionais cardíacas em diferentes momentos.

Evaluation of osteopathy in thalassemia by bone mineral densitometry and biochemical indices.

Objective To evaluate osteopathy in thalassemia by bone mineral densitometry (BMD) and biochemical indices. Methods Prospective review analysis with no follow up from 2006 to 2007 of 42 regularly transfused thalassemics aged 10–25 years (27 boys, 15 girls) was done. Anthropometry, pubertal stage and symptomatology were noted. Urinary C–terminal cross–linked telopeptide of type–1 collagen (Crosslaps) by ELISA; serum 25–OH vitamin D and osteocalcin by RIA; parathyroid hormone (PTH) and ferritin by chemiluminescence and IGF–1 by Enzyme immunoassay were evaluated. Dual Energy X-ray Absorptiometry (DEXA) of lumbar spine and femur was done on Lunar prodigy system. Data was entered and analyzed using the SPSS for Windows software. Mean comparisons were done by ANOVA 1 and data was compared using Chi–square test and p value<0.05 was taken as significant. Results Of 42 patients, 81% had osteoporosis by Z–score of DEXA. Urinary crosslaps was high in 55%; 36% had increased osteocalcin; 62% had low vitamin D levels; 38% had high parathyroid levels and IGF–1 was low in 52%. Mean serum ferritin level was 5344±2855 ng/dl. There was statistical significance (p=0.046) between chronological age and BMD. All 42 cases were divided into two groups: Group–1 (Normal DEXA), Group–2 (Abnormal DEXA) and analysis of biochemical indices between two groups showed no significant difference in any of the biochemical parameters. Conclusion This study revealed majority of thalassemics with inadequate chelation have bone resorption with advancing chronological age and BMD should be evaluated regularly for early diagnosis to prevent morbidity.

Anemias / Anemia

As anemias constituem as doenças do sangue mais frequentes. O termo anemia significa redução da hemoglobina por unidade de volume de sangue, de acordo com a idade, sexo e tensão de oxigênio do ambiente. Pode referir-se ainda a uma síndrome clínica ou a um quadro laboratorial. As anemias podem ser provocadas por vários fatores e se classificam segundo os critérios morfológicos (normocítica/normocrômica microcítica/hipocrômica macrocítica/normocrômica) ou fisiopatológicos, considerando-se a etiologia, em anemias por falta de produção - hipoproliferação, por sobrevida diminuída dos eritrócitos - hemólise ou por perda sanguínea - hemorragia. As avaliações clínica e laboratorial são de fundamental importância para a elucidação diagnóstica e tratamento adequado.

Utility of family studies in diagnosing abnormal hemoglobins/thalassemic states.

Objective. To resolve all indeterminate cases on HPLC screening with the help of family studies and to further confirm the results by genetic analysis. Methods. In our 11 years experience with HPLC at Sir Ganga Ram Hospital, we solved many cases with the help of family studies on parental blood samples in which patient could have possibly been homozygous vs compound heterozygous. Genetic analysis was done on index case as well as on parental samples with ARMS-PCR technique to confirm the results. Results. In 100% of cases, we noted that the diagnosis obtained by family studies was commensurate with that obtained by DNA analysis. Conclusion. In centers, which do not have the facility for genetic analysis, family studies by HPLC can be equally useful.

Low cost combination of DCIP and MCV was better than that of DCIP and OF in the screening for hemoglobin E.

OBJECTIVE: To evaluate hemoglobin E screening tests in a large scale of cases. MATERIAL AND METHOD: A cross-sectional descriptive study was conducted Whole blood obtained from subjects was evaluated for CBC, OF, DCIP, and hemoglobin typing. RESULTS: Five hundred twenty seven hemoglobin E and 280 reference subjects participated. DCIP's sensitivity, specificity, positive predictive value, and negative predictive value were 97.16%, 98.93%, 99.42%, and 95.19%, respectively. These values of OF were 69.12%, 80.00%, 86.67%, and 57.88%, respectively. In the combination of DCIP and OF gave rise to these values of 99.43%, 79.29%, 90.03%, and 96.67%, respectively. Finally the combination of DCIP and MCV < 80 fL resulted in these values to be 99.43%, 98.93%, 99.43%, and 98.93%, respectively. False positive and false negative rate were 1.07% and 0.57%, respectively. CONCLUSION: Combination of DCIP and MCVwas better than that of DCIP and OF in hemoglobin E screening.

Clinical silent cerebral infarct (SCI) in patients with thalassemia diseases assessed by magnetic resonance imaging (MRI).

BACKGROUND: Silent cerebral infarct (SCI) could be detected on magnetic resonance imaging. It seems to be associated with the risk of stroke. Ischemic stroke has been reported in sickle cell anemia. Sickle red cell in hypoxic state associated with hypercoagulopathy is the risk factor of blood vessel occlusion leading to ischemic stroke. Hypercoagulable state has been documented in patients with beta thalassemia/Hb E disease, which their red cells are abnormal in deformity. OBJECTIVE: Explore SCI in patients with beta thalassemia/Hb E disease and provide a guideline for prevention of stroke. MATERIAL AND METHOD: Sixty-seven patients (29 males and 28 females, age 10-59 yrs, with a mean age of 31) with beta-thal/Hb E disease who were in the steady state without any neurological sign and symptom and no other associated stroke related disease such as DM, HT were included for MRI scanning. The cerebral MRI protocals were axial Flair, T2 Gre and 3DTOFMRA (3-dimension time of flight magnetic resonance angiography) of the brain. RESULTS: 67 patients (29 males and 28 females) with beta-thal/Hb E disease who were in the steady state without any neurological sign and symptom and no other associate stroke related disease such as DM, HT were included for MRI scanning. The ages of the patients were 10 to 59 years with a mean of 31 years. The abnormalities of the brain were found in 16 of 67 (24%). Most of the lesions were lacunar infarcts with varying amounts in the deep cerebral white matter. One cortical and subcortical infarct was observed with irregularity and stenosis of the intracranial vessels noted by MRA. All cases showed increased vascularity compared to the normal control subject. CONCLUSION: This preliminary prevalence of 24% of SCI in this genotype of thalassemia was higher than found in sickle cell disease (11%). It may be associated with coagulopathy and deformity of the red cell. Further study is needed.

Rastreamento de hemoglobinas variantes e talassemias com associação de métodos de diagnóstico / Tracking of variant hemoglobins and thalassemias by association of diagnosis methodologies

O diagnóstico neonatal de hemoglobinopatias permite a melhoria na qualidade de vida do doente com a implementação de medidas profiláticas, acompanhamento clínico e aconselhamento genético. Objetivou-se no presente estudo o diagnóstico das hemoglobinas variantes e talassemias em amostras de sangue de cordão umbilical de neonatos da região noroeste do estado de São Paulo por Cromatografia Líquida de Alta Performance (HPLC), associada a procedimentos eletroforéticos, bioquímicos e citológicos, visando adaptar a melhor metodologia de análise à freqüência dos defeitos de hemoglobina na população brasileira. Foram analisadas 3.048 amostras de janeiro de 2001 a dezembro de 2002, e 13,12 por cento apresentaram alterações de hemoglobinas, sendo 1,84 por cento com presença de Hb S; 0,6 por cento com Hb C; 0,65 por cento com resultados sugestivos de beta talassemia e 9,48 por cento sugestivos de alfa talassemia. Dentre as hemoglobinas anormais encontradas, 0,33 por cento das amostras apresentaram resultados discordantes nas metodologias aplicadas. A HPLC mostrou-se eficiente para a identificação de variantes de hemoglobinas e permitiu a análise de grande número de amostras em curto espaço de tempo e agilidade nas triagens. Entretanto, foi necessário associar outros métodos de análise para a caracterização das formas talassêmicas.

The neonatal diagnosis hemoglobinopathies improves the quality of life by prophylactic measures and genetic counseling. The diagnosis of variant hemoglobins and thalassemias was considered in the present study. Cord blood samples of newborn babies from the northwestern region of São Paulo state were analyzed by High Performance Liquid Chromatography (HPLC) associated with electrophoretic, biochemical and cytologic procedures aiming to adapt the best methodology to analyze the frequency of hemoglobin defects in the Brazilian population. Three thousand and forty-eight samples were analyzed from January 2001 to December 2002 with 13.12 percent presenting hemoglobin alterations; 1.84 percent had Hb S; 0.6 percent had Hb C; 0.65 percent were suggestive of thalassemia beta and 9.48 percent were suggestive of thalassemia alpha. Among the abnormal hemoglobins, 0.33 percent of the samples presented different results in the methodologies used. HPLC was efficient to identify variant hemoglobins and enable the analysis of several samples in a short period of time with agility in screenin. However, an association of other methods was necessary for the characterization of the thalassemic forms.

Chorionic villus sampling for early prenatal diagnosis at Bhumibol Adulyadej Hospital.

OBJECTIVE: To evaluate results of chorionic villus sampling for early prenatal diagnosis at Bhumibol Adulyadej Hospital. DESIGN: Retrospective descriptive study. SETTING: Perinatal unit, Department of Obstetrics and Gynaecology, Bhumibol Adulyadej Hospital. SUBJECTS: Three hundred and eighty three women were enrolled to chorionic villus sampling at the perinatal unit, Department of Obstetrics and Gynecology, Bhumibol Adulyadej Hospital, from November 10,1997 to October 17, 2006. RESULTS: During the present study periods three hundred and eighty three women were recruited, of these chorionic villus sampling for chromosome diagnosis were performed on 355 while 6 were for abnormal Thalassemia screening. Twenty two cases were excluded because ultrasound examination showed anembryonic pregnancy or fetal demise in utero in 13 cases, multiple fibroids in 4 cases, large area of placental hemorrhage in 3 cases, 1 case of multiple pregnancy and in 1 case the placenta was in an inappropriate position. The most common indication was elderly gravidarum (95.84%). Other indications were abnormal Thalassemia screening, abnormal ultrasound findings, family chromosome disorder previous Down syndrome, and severe oligohydramnios. The authors found eleven cases of chromosome abnormalities, four cases of maternal cell contamination and three cases of failed tissue culture (two cases from transcervical chorionic villus sampling and one case from transabdominal chorionic villus sampling) and two cases of mosaicism. There were two fetal losses in the present study and all the babies from the normal chromosome result looked normal. Second trimester amniocentesis following chorionic villus sampling was required due to maternal cell contamination, mosaicism and failed tissue culture. (2.77%) All cases had follow-up ultrasound scan during 18-20 weeks. CONCLUSION: The authors found that chorionic villus sampling is a possible alternative technique for prenatal diagnosis of cytogenetic abnormalities and abnormal Thalassemia screening in Thailand. It probably has a slightly higher rate of failed tissue culture and maternal cell contamination than amniocentesis, but it is generally done earlier in pregnancy than amniocentesis and is particularly advantageous for detecting certain genetic conditions.

Clinical significance of soluble transferrin receptors in hypochronic microcytic anaemias

The interaction of plasma transferrin with specific membrane transferrin receptors in erythroid precursors is crucial for the process of iron delivery to cells. During this process, soluble truncated monomers of membrane transferrin receptors [sTfRs] are delivered in the serum and their levels appear to be related to the number of erythroid precursors in the bone marrow and to the body iron status. Our aim was to determine the value of sTfRs in the diagnosis of hypochromic micro cytic anaemias. Levels of sTfRs were estimated in the serum of 45 paediatric patients presenting with hypochromic microcytic anaemia. Patients were divided into three groups according to their diagnosis [IDA, A CD and thalassaemia, each group consisting of 15 patients. Ten healthy age and sex matched controls were included in our study. Patients with iron deficiency anaemia [IDA] had significantly higher levels of sTfRs [mean=14.83 +/- 3.38 mg/U than normal controls [mean=4.1 +/- 1.l mg/L] and both patients with thalassaemia [mean=9.27 +/- 4.02 mg/U] and anaemia of chronic illness [ACD] [mean=2.43 +/- l.38 mg/U. sYfRs did not significantly differ in the group of ACD patients from normal controls. Although our thalassaemia patients showed lower sTfRs levels than patients with IDA, their levels were significantly higher than both A CD patients and controls. In thalassaemia patients with Hb F levels of>40%, there was a positive correlation between sTfR levels and the percentage of Hb F

Prenatal prevention for severe thalassemia disease at Srinagarind Hospital.

OBJECTIVE: To evaluate the results and cost-effectiveness of prenatal prevention measurement in severe thalassemia diseases at Srinagarind Hospital. STUDY DESIGN: Descriptive study. SETTING: Antenatal care (ANC) Clinic, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University. SUBJECTS: 1,498 thalassemic screened pregnant women first presenting at ANC Clinic at gestational age less than 17 weeks. MATERIAL AND METHOD: Medical records of thalassemic screened pregnant women between February 2002 and February 2005 were analyzed. Those with a value of mean corpuscular volume (MCV) less than 80 fl, or positive dichlorophenol indophenol precipitation test (KKU-DCIP Clear Reagent Kit) underwent hemoglobin (Hb) typing by high performance liquid chromatography (HPLC) together with thalassemia investigation (complete blood count, MCV and Hb typing) of their husbands and to identify couples at risk of 3 severe thalassemia diseases; Hb Bart's hydrops fetalis, homozygous, -thalassemia and, -thalassemia/ Hb E disease. Then they were advised to undergo DNA analysis and, if they had fetal risk, appropriate prenatal diagnosis was offered. MAIN OUTCOME MEASURE: Number of affected fetuses detected by prenatal diagnosis. RESULTS: Nine hundred and ninety six pregnant women (66.49%) were positive on screening. Of these, 642 (64.46%) had thalassemia investigation done with their spouses. There were 19 couples at risk (1.27% of total screened pregnant women) for having fetal severe thalassemia disease from initial laboratory results. Most of them were, -thalassemia/ Hb E diseases. We found only 10 pregnant women (52.63%) that had undergone prenatal diagnosis. The consequent results were two affected fetuses (20%), one was Hb Bart's hydrops fetalis, and the other was, o-thalassemia/ Hb E disease. In these cases, their parents decided to discontinue the pregnancy. Our prevention program could save 1.14 million bahts for the cost of treatment in two prevented severe thalassemia cases. CONCLUSION: The prenatal prevention program of severe thalassemia disease at Srinagarind Hospital can effectively detect affected fetuses and reduce severe thalassemia disease, which is a major health problem in Thailand.

Risk of a couple having a child with severe thalassemia syndrome, prevalence in lower northern Thailand.

Thalassemia screening in pregnant women and their spouses was performed at Buddhachinaraj Provincial Hospital and 8 community hospitals in Phitsanulok; lower northern Thailand. The prevalence of thalassemic carrier state was determined of 1,198 couples. Of these, 4.8% had heterozygous alpha thalassemia-1, 1.6% had heterozygous beta thalassemia, 12.4% had heterozygous hemoglobin (Hb) E, 2.7% had homozygous Hb E and 0.25% of others had abnormal Hb. Eighteen at risk couples (1.5%) were identified. Fifteen couples were at risk for compound heterozygous Hb E / beta thalassemia and the remaining 3 were at risk for homozygous alpha thalassemia-1. Prenatal diagnosis (cordocentesis) was performed in 4 couples at risk, but no fetuses with severe thalassemic disease were detected.