DOUBLE HETEROZYGOSITY OF HBS AND HBD PUNJAB IN TWO SIBLINGS WITH COVID-19 INFECTION: A CASE REPORT
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Date
2022-06
Journal Title
Journal ISSN
Volume Title
Publisher
Basic Medical Sciences Forum
Abstract
Introduction : HbD Punjab is also known as HbD Los Angeles was first described by Itano in 1951. In HbD point mutation in beta globin chain occurs . HbD associated with HbS in which one gene carries HbD while other gene carries HbS mutation . Infants are at increased risk of life threatening complications like severe anaemia , splenic sequestration , overwhelming septicaemia . Method: Two siblings one 9 year old male and other 4 year old male patients were presented with covid 19 infection in the hospital . Both were known caseof sickle cell disease . There blood samples were taken and cbc , retic and HPLC was done . Both were diagnosed as HbSD Heterozygosity by HPLC method .Their mother was a know case of sickle cell trait and father was known case of HbD Punjab trait. RESULT : In above study diagnosis of HbSD in both siblings was confirmed byHPLC. Since both their parents were carriers of sickle cell trait(mother) and HbD trait(father) . HbSD is a heterozygous state beta 121 glutamine residues stabilise the polymer and increases intracellular polymerization of HbS and increase sickling phenomenon .CONCLUSION : HbSD is a rare but very serious disorder with high prevalence in northern part of India . It is a genetically inherited disorder occurs when either of one parent is HbD trait and other one being HbS trait.
Description
Keywords
HbD Punjab, HbS trait, Heterozygous
Citation
Shah Dr. Vaishvi, Shah Dr. Manasvi, Jhaveri Dr. Preeti, Shah Dr. F. R.. DOUBLE HETEROZYGOSITY OF HBS AND HBD PUNJAB IN TWO SIBLINGS WITH COVID-19 INFECTION: A CASE REPORT. Indian Journal of Applied-Basic Medical Sciences. 2022 Jun; 38(24A): 1-5