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Specialty: Internal Medicine
Condition: Pain
Countries: Kuwait Health
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The Genetic and Clinical Significance of Fetal Hemoglobin Expression in Sickle Cell Disease
Sickle cell disease (SCD) is phenotypically heterogenic. One major genetic modifying factor is the patient ’s level of fetal hemoglobin (HbF). The latter is determined by the patient’s β-globin gene cluster haplotype and cis-acting and trans-acting single gene polymorphisms (SNP) at other distant quantitative trait loci (QTL). The Arab/India haplotype is associated with persistently high HbF levels and also a relatively mild phenotype. This haplotype carries the Xmn1 (C/T) SNP, rs 7482144 in the HBG2 locus. The major identified trans-acting QTL contain SNPs residing in the BCL11A in chromosome 2 and the HMIP locus on ...
Source: Medical Principles and Practice - September 3, 2020 Category: Internal Medicine Source Type: research
