Triple alpha-genes (alpha alpha alpha anti3.7) in a patient with sickle cell anaemia.
This paper reports the case of a 17-year-old male student from the Jaizan area in south-western Saudi Arabia who had sickle cell anaemia and possessed three alpha-genes on one chromosome (alpha alpha alpha anti3.7) and two on the other. The clinical manifestations were severe, with frequent blood transfusion requirements and frequent episodes of painful crises, severe anaemia and tissue involvement. In comparison with age and sex-matched sickle cell anaemia patients with one alpha-gene deletion (-alpha/alpha alpha), or a normal alpha-gene arrangement (alpha alpha/alpha alpha), a more severe disease presentation was obvious in the propositus. It is suggested that with the surplus alpha-globin chains, more severe haematological and clinical abnormalities occur, these influence the phenotypic expression of sickle cell anaemia. However, more patients with this type of gene arrangement must be studied before a definite conclusion can be reached regarding the influence of excess alpha-globin chains on the presentation of sickle cell anaemia.
el-Hazmi
M A
MA
Medical Biochemistry Department, College of Medicine and King Khalid Hospital, Riyadh, Saudi Arabia.
Warsy
A S
AS
D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000097:blood / Q000150:complications / Q000235:genetics*; D001663:Bilirubin / Q000032:analysis; D001798:Blood Proteins / Q000032:analysis; D002118:Calcium / Q000097:blood; D002784:Cholesterol / Q000097:blood; D004906:Erythrocyte Count; D004909:Erythrocyte Indices; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D007958:Leukocyte Count; D008297:Male; D010758:Phosphorus / Q000097:blood; D014527:Uric Acid / Q000097:blood
D001798:Blood Proteins; D006454:Hemoglobins; D014527:Uric Acid; D010758:Phosphorus; D005914:Globins; D002784:Cholesterol; D001663:Bilirubin; D002118:Calcium