Prevalence and molecular characterization of alpha-thalassemia syndromes among Indians

Genetic Testing
Anita NadkarniKanjaksha Ghosh

Abstract

This study was undertaken to determine the prevalence and molecular basis of alpha-thalassemia in the Indian population and its implications in genetic counseling and prenatal diagnosis. 1253 random samples were screened for hemoglobinopathies. Red cell indices were measured on the Sysmex K 1000 cell counter; HbA2 and HbF levels were quantitated using high performance liquid chromotography (HPLC). Cellulose acetate electrophoresis and isoelectric focusing (IEF) was done to detect the presence of Hb Bart's in cord blood samples. alpha-Globin gene mapping was done using Southern blot hybridization of BamHI and BglII digests. Of the 1253 subjects, 132 had a single alpha-gene deletion (10.5%) while 29 had two alpha-gene deletions (2.31%). Fifteen cases showed the presence of alpha-gene triplication (1.1%). A single case showed the presence of one alpha-gene deletion as well as alpha-gene triplication (-alpha/alphaalphaalpha). Overall, the prevalence of alpha-thalassemia was 12.9%. Region-wise and caste-wise analysis showed the highest prevalence of alpha-thalassemia among the Punjabi population originating from the northern region of India. alpha-Thalassemia is by far the commonest hemoglobinopathy in India, but it is not a cause o...Continue Reading

References

May 1, 1994·British Journal of Haematology·C L HarteveldL F Bernini
Mar 1, 1993·Baillière's Clinical Haematology·D R Higgs
Mar 1, 1993·Baillière's Clinical Haematology·S L Thein
Oct 1, 1996·American Journal of Hematology·A H NadkarniR B Colah
Jun 1, 1997·American Journal of Hematology·M B MukherjeeR Krishnamoorthy
Jun 15, 1999·American Journal of Hematology·Ajit C GorakshakarR B Colah
Apr 25, 2000·Indian Journal of Pediatrics·R B Colah, D Mohanty
Sep 18, 2001·American Journal of Hematology·Anita NadkarniD Mohanty
Feb 9, 2002·Clinical and Experimental Medicine·S BandyopadhyayU B Dasgupta
Aug 12, 2003·Hemoglobin·Shaheen N KhanSheikh Riazuddin

Citations

Jun 2, 2012·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Kanjaksha Ghosh
Oct 4, 2011·Indian Journal of Clinical Biochemistry : IJCB·Vijay S BhatPatnam Rajagopalan Krishnaswamy
Dec 24, 2013·Paediatric Respiratory Reviews·Santosh L SarafVictor R Gordeuk
Nov 18, 2014·Indian Journal of Human Genetics·Kanjaksha GhoshCecil Ross
Feb 16, 2010·American Journal of Clinical Pathology·Anita NadkarniR B Colah
Jul 14, 2016·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Man-Yu WuDong-Zhi Li
Jan 1, 2014·International Scholarly Research Notices·Leela PantAlka Mathur
Jun 1, 2016·The Indian Journal of Medical Research·Somphon PharephanLuksana Makonkawkeyoon
Nov 30, 2018·International Journal of Laboratory Hematology·Anita NadkarniR B Colah
Jun 14, 2018·Journal of Obstetrics and Gynaecology of India·Manisha KumarAnuradha Singh
Mar 5, 2019·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Dipti UpadhyeR B Colah
Oct 15, 2020·International Journal of Environmental Research and Public Health·Lucky Poh Wah GohPing-Chin Lee

Related Concepts

Hemoglobin Bart's
Umbilical Cord Blood
Fetal Hemoglobin
Globin
Hemoglobin A2
Abnormal Hemoglobins
Alpha-Thalassemia
Alphavirus
Southern Blot Assay (Procedure)
High Pressure Liquid Chromatography Procedure

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