Hemoglobin D-Punjab
Within the medical specialty of hematology, Hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, D-North Carolina, D-Portugal, D-Oak Ridge, and D-Chicago, is a hemoglobin variant. It originates from a point mutation in the human β-globin locus and is one of the most common hemoglobin variants worldwide.[1] It is so named because of its higher prevalence in the Punjab region of India and Pakistan, along with northern China, and North America. It is also the most frequent hemoglobin variant in Xinjiang Uyghur Autonomous Region of China, with a 1997 study indicating that Hemoglobin D-Punjab accounts for 55.6% of the total hemoglobin variants.
Hemoglobin D is a result of a mutation in the one or both of the Beta-chains that make up hemoglobin molecules. Having one gene effected is referred to as trait; having two is referred to as homozygous "disease" although the symptoms of this disease are mild.
Symptoms usually present with mild hemolytic anemia and mild to moderate splenomegaly.
Even homozygous Hemoglobin D disease does not typically cause clinically significant symptoms. It is usually present with mild haemolytic anaemia and moderate splenomegaly. The anemia usually occurs in the first few months of life, as fetal hemoglobin decreases and hemoglobin D increases.
Hb D-Punjab becomes significant when it is co-inherited with Hb S or B thalassemia.
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