A CASE REPORTS OF RARE CO-EXISTENCE OF HB Q INDIA & BETA-THALASSAEMIA TRAIT FOUND DURING FAMILY SCREENING.

Dr. Sorathiya Varsha P.; Dr. Vachhani Nishith A.; Dr. Nandani Sanjeev L.; Ms. Vekariya Daya J.; Mrs. Kashiyani Heena N.

Volume : IX, Issue : II, February - 2020

A CASE REPORTS OF RARE CO-EXISTENCE OF HB Q INDIA & BETA-THALASSAEMIA TRAIT FOUND DURING FAMILY SCREENING.

Dr. Sorathiya Varsha P. , Dr. Vachhani Nishith A. , Dr. Nandani Sanjeev L. , Ms. Vekariya Daya J. , Mrs. Kashiyani Heena N.

Abstract :

Hemoglobin QIndia (α 64 Asp→His) is a very rare alpha chain structural variant caused by mutation in the position of codon 64 of alpha 1 gene. Usually it presents in heterozygous state and with normal haematological blood picture. India is known as a country with a high prevalence of various haemoglobinopathy. We have reported two cases of Hb Q India with beta thalassemia trait during antenatal thalassemia screening covering her Family. Haemoglobin estimation was performed by automated cell counter & haemoglobin variant analysis was done by HPLC method. Parents with various heterozygous states can lead to offspring with double heterozygous or homozygous defects. So, advisable to do careful antenatal screening test to diagnose this rare condition