Hemoglobin D-Punjab

Hemoglobin D-Punjab
Other namesHemoglobin D disease
SpecialtyHematology

Within the medical specialty of hematology, Hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles,[1] D-North Carolina, D-Portugal, D-Oak Ridge, and D-Chicago,[2] 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.[2]

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.

  1. ^ a b Torres, Lidiane de Souza; Okumura, Jéssika Viviani; Silva, Danilo Grünig Humberto da; Bonini-Domingos, Claudia Regina (March 2015). "Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis". Revista Brasileira de Hematologia e Hemoterapia. 37 (2): 120–126. doi:10.1016/j.bjhh.2015.02.007. ISSN 1516-8484. PMC 4382585. PMID 25818823.
  2. ^ a b El-Kalla, S.; Mathews, A. R. (January 1997). "HB D-Punjab in the United Arab Emirates". Hemoglobin. 21 (4): 369–375. doi:10.3109/03630269709000669. ISSN 0363-0269. PMID 9255615.