Hemoglobin D

Hemoglobin D
SpecialtyHematology
SymptomsHbD/HbA asymptomatic; HbD/HbD mild hemolytic anemia; HbD/HbS sickle cell anemia; HbD/Hb-thalassemia thalassemia
CausesPoint mutation in HBB gene
TreatmentNot required

Hemoglobin D (HbD) is a variant of hemoglobin, a protein complex that makes up red blood cells. Based on the locations of the original identification, it has been known by several names such as hemoglobin D-Los Angeles, hemoglobin D-Punjab,[1] D-North Carolina, D-Portugal, D-Oak Ridge, and D-Chicago.[2] Hemoglobin D-Los Angeles was the first type identified by Harvey Itano in 1951, and was subsequently discovered that hemoglobin D-Punjab is the most abundant type that is common in the Sikhs of Punjab (of both Pakistan and India) and of Gujarat.[3]

Unlike normal adult human hemoglobin (HbA) which has glutamic acid at its 121 amino acid position, it has glutamine instead.[4] The single amino acid substitution can cause various blood diseases, from fatal genetic anemia to mild hemolytic anemia, an abnormal destruction of red blood cells.[5] Depending on the type of genetic inheritance, it can produce four different conditions:[4] heterozygous (inherited in only one of the chromosome 11) HbD trait, HbD-thalassemia, HbS-D (sickle cell) disease, and, very rarely, homozygous (inherited in both chromosome 11) HbD disease.[6] It is the fourth hemoglobin type discovered after HbA, HbC and HbS;[1] the third hemoglobin variant identified after HbC and HbS;[2] and the fourth most common hemoglobin variant after HbC, HbS, and HbO.[5]

  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.
  3. ^ Shekhda, Kalyan Mansukhbhai (2017). "Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant". Journal of Clinical and Diagnostic Research. 11 (6): 21–22. doi:10.7860/JCDR/2017/27816.10114. PMC 5535424. PMID 28764232.
  4. ^ a b Randolph, Tim R. (2020), "Hemoglobinopathies (structural defects in hemoglobin)", Rodak's Hematology, Elsevier, pp. 394–423, doi:10.1016/b978-0-323-53045-3.00033-7, ISBN 978-0-323-53045-3, S2CID 229224049, retrieved 2024-02-29
  5. ^ a b Shanthala Devi, A. M.; Rameshkumar, Karuna; Sitalakshmi, S. (2016). "Hb D: A Not So Rare Hemoglobinopathy". Indian Journal of Hematology & Blood Transfusion. 32 (Suppl 1): 294–298. doi:10.1007/s12288-013-0319-3. ISSN 0971-4502. PMC 4925467. PMID 27408416.
  6. ^ Dasgupta, Amitava; Wahed, Amer (2014), "Hemoglobinopathy", Clinical Chemistry, Immunology and Laboratory Quality Control, Elsevier, pp. 363–390, doi:10.1016/b978-0-12-407821-5.00021-8, ISBN 978-0-12-407821-5, retrieved 2024-02-29