Hemoglobin E-beta thalassemia in Uttar Pradesh.

OBJECTIVE To evaluate the molecular make up of hemoglobin E-Beta thalassemia to facilitate diagnosis, genetic counseling and prenatal diagnosis in Uttar Pradesh. DESIGN DNA analysis. SETTING Referred hemolytic anemia cases to Genetics OPD of a tertiary care center. SUBJECTS 21 families of HbE-thalassemia of which 19 were of UP origin. METHODS The patient and obligate carriers in their families were evaluated at hematological, biochemical and molecular level. A total of 62 cases were evaluated which included the index cases and their family members. Red blood cell indices, osmotic fragility, hemoglobin electrophoresis, quantitation of fetal hemoglobin, HbA2/E, serum iron and total iron binding capacity estimation were carried out in all the blood samples. DNA analysis was done for HbE and beta thalassemia mutations. RESULTS The commonest, IVSI-5 (G-->C) mutation (57%) was found along with HbE mutation. Only 23/26 cases belonged to the group of common beta-thal mutations as described in literature. CONCLUSION Establishment of antenatal diagnostic services is necessary in those parts of India where both these mutations are commonly seen.