Complex interactions of δβ hybrid haemoglobin (Hb Lepore‐Hollandia) Hb E (β26 G→A) and α+ thalassaemia in a Thai family

• Published in: European journal of haematology Vol. 68; no. 2; pp. 107 - 111
• Main Authors: Viprakasit, Vip, Pung‐Amritt, Parichat, Suwanthon, Lerlugh, Clark, Kevin, Tanphaichitr, Voravarn S.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Munksgaard International Publishers 01.02.2002; Blackwell
• Subjects: Anemias. Hemoglobinopathies; Biological and medical sciences; Diseases of red blood cells; haemoglobin E; haemoglobin Lepore‐Hollandia; Hematologic and hematopoietic diseases; Medical sciences; Tropical medicine; α+ thalassaemia; Thailand; Asia; Human; Hemoglobinopathy; Clinical form; Hemopathy; Epidemiology; Genetic disease; Globin; Hemolytic anemia; Gene; α-Thalassemia; Genetics; Mutation; Hemoglobin E
• ISSN: 0902-4441; 1600-0609
• DOI: 10.1034/j.1600-0609.2002.01637.x

: Haemoglobin Lepore‐Hollandia is an extremely rare condition in which a small deletion gives rise to a δβ hybrid, β‐like globin. There are two single reports of patients from South Pacific Islands and Bangladesh. We describe a family from central Thailand, in which this Hb Lepore‐Hollandia interacts with a common β globin variant (βE resulting from the codon 26, G→A mutation) and α+ thalassaemia (−α3.7). This intriguing interaction caused a troublesome diagnosis, as the two proband brothers were diagnosed as having Hb E/β thalassaemia. Molecular analysis of genomic DNA performed in this study allowed the definitive diagnosis of this complicated interaction. Such studies are required in the diagnosis of thalassaemia and haemoglobinopathies for particular regions like South‐east Asia, where many different genotypes may give rise to haemoglobin disorders.