Rare Association of Hb D-Los Angeles (HBB: c.364G>C) with Hb H Disease: Diagnosis and Clinical Implications. (2nd November 2018)

• Record Type: Journal Article
• Authors: Zioga, Aikaterini; Thanopoulou, Eleni; Hatzi, Elissavet; Chaliasos, Nikolaos; Georgiou, Ioannis; Makis, Alexandros
• Is Part Of: Hemoglobin. Volume 42:Number 5/6(2018)
• Page Start: 336
• Page End: 338
• Publication Date: 2018-11-02
• Subjects: α-Thalassemia (α-thal) -- Hb D-Los Angeles (HBB: c.364G>C); Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2018.1558066
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: Hb D-Los Angeles (or Hb D-Punjab) ( HBB : c.364G > C) is found worldwide and is derived from a point mutation in the β-globin gene prevalent in the Punjab region of Northwestern India. Heterozygous or homozygous inheritance does not cause significant medical problems, whereas association with other hemoglobinopathies, especially β-thalassemia (β-thal) and sickle cell disease, changes the phenotype. Coinheritance of Hb D-Los Angeles with Hb H disease (α–/– –) has never been reported before. The presence of this rare combination in a family of Greek origin is herein described, and the challenges involving clinical management are discussed.