Rare Association of Hb D-Los Angeles (HBB: c.364G>C) with Hb H Disease: Diagnosis and Clinical Implications |
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Authors: | Aikaterini Zioga Eleni Thanopoulou Elissavet Hatzi Nikolaos Chaliasos Ioannis Georgiou |
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Affiliation: | 1. Child Health Department, Faculty of Medicine, University of Ioannina, Ioannina, Greece;2. Genetics and IVF Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, University of Ioannina, Ioannina, Greece |
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Abstract: | AbstractHb 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. |
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Keywords: | α-Thalassemia (α-thal) Hb D-Los Angeles (HBB: c.364G>C) |
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