Compound heterozygosity for hemoglobin S and D: what do we need to know?

Bonini-Domingos, Cláudia Regina

doi:10.1016/j.bjhh.2016.06.001

Cited by 3 publications

(1 citation statement)

References 8 publications

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“…heterozigoto Hb SD resulta em alterações clínicas mais perceptíveis. 5,6 As características clínicas e laboratoriais variam dependendo do subtipo de Hb D envolvido. 3,7,8 A Hb D interage com a Hb S favorecendo a polimerização durante a desoxigenação e produzindo uma anemia hemolítica com características clínicas semelhantes a anemia falciforme de intensidade moderada.…”

Section: Resultadounclassified

Hemoglobinopathy SD presenting as Hemoglobinopathy SS

Lissa¹,

Bach²,

Spezia³

et al. 2017

Medicina (Ribeirão Preto)

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RESUMOEste relato de caso mostra a interação da hemoglobina (Hb) S com a Hb D de uma criança que foi previamente diagnosticada como anemia falciforme (Hb SS) devido ao seu padrão de migração da eletroforese em pH alcalino. O fenômeno de falcização foi confirmado com 2% de metabissulfito de ABSTRACTThis case report shows the interaction of hemoglobin (Hb) S with Hb D. in a child previously diagnosed with sickle cell anemia based on the Hb electrophoretic migration pattern in alkaline pH. The sickling phenomenon was confirmed with 2% sodium metabisulfite. The father and mother of the child had a heterozygous pattern (Hb AS) in hemoglobin electrophoresis at alkaline pH. The sickling phenomenon has been confirmed to the father, but it has not been confirmed for the mother. The electrophoresis at acid pH was used to differentiate Hb S from Hb D. The family's phenotype was established: the father has Hb AS, the mother AD and, the child SD. The purpose of this study was to emphasize the importance of confirmation of Hb S detected in electrophoresis at alkaline pH, with the solubility test or 2% sodium metabisulfite and with the electrophoresis at acid pH.

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Section: Resultadounclassified

Hemoglobinopathy SD presenting as Hemoglobinopathy SS

Lissa¹,

Bach²,

Spezia³

et al. 2017

Medicina (Ribeirão Preto)

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Double heterozygosity for hemoglobin S and D Punjab in Basra, Iraq: A Clinical and hematological study of 42 patients

et al. 2019

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Double Heterozygosity Of Hbs And Hbd Punjab In Two Siblings With Covid-19 Infection: A Case Report

Shah

Jhaveri

et al. 2022

IJABMS

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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 case of 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 by HPLC. 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.

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Compound heterozygosity for hemoglobin S and D: what do we need to know?

Cited by 3 publications

References 8 publications

Hemoglobinopathy SD presenting as Hemoglobinopathy SS

Hemoglobinopathy SD presenting as Hemoglobinopathy SS

Double heterozygosity for hemoglobin S and D Punjab in Basra, Iraq: A Clinical and hematological study of 42 patients

Double Heterozygosity Of Hbs And Hbd Punjab In Two Siblings With Covid-19 Infection: A Case Report

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