Study of parents of β-thalassemia major children to determine cutoff values of hematological parameters for diagnosis of β-thalassemia trait and assessment of anemia in them.

Background: Because of the overlapping MCV, MCH and HbA 2 values in BTT and non-BTT subjects our laboratory determined own cutoffs. Aims: To establish cutoff values by investigating the parents of thalassemia major children and to assess the degree of anemia in BTT subjects. Materials and Methods: Study includes 179 parents of thalassemia major children (BTT cases) and 287 non-BTT controls. Samples were analyzed on an electronic hematology analyzer. The samples having MCV ≤ 76 fl and MCH ≤ 27 pg were quantified for HbA 2 by cellulose acetate electrophoresis and grey zone samples were confirmed on HPLC. Statistical Analysis Mean ± SD, sensitivity, specificity, PPV, NPV and accuracy were calculated. The histograms were plotted for MCV, MCH and HbA 2 . Results: Cases having MCV ≤ 76 fl and MCH ≤ 27 pg if considered as suspected cases of BTT then we could have missed five known BTT samples. Sensitivity increased to 100% in all three diagnostic parameters when the cutoff values were raised and specificity for MCV and MCH was decreased. But specificity was 100% with raised cutoff for HbA 2 . Hb and HCT mean values were significantly reduced in BTT cases compared to controls (P < 0.001). In 100% females and 84.9% males having BTT, mild to moderate anemia was observed. Conclusion: In our setup, the cutoff values are MCV (≤78.0 fl), MCH (≤28 pg) and HbA 2 (>3.8%) for BTT diagnosis and there is a mild to moderate anemia in BTT cases.

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.