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.


METHODS
DNA analysis.


METHODS
Referred hemolytic anemia cases to Genetics OPD of a tertiary care center.


METHODS
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.


CONCLUSIONS
Establishment of antenatal diagnostic services is necessary in those parts of India where both these mutations are commonly seen.
Agarwal
S
S
Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow.
Gulati
R
R
Singh
K
K
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006446:Hemoglobin E / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012720:Severity of Illness Index; D017086:beta-Thalassemia / Q000235:genetics*
D006446:Hemoglobin E