β-Globin gene haplotype in Hb SC disease

✍ Scribed by Steinberg, Martin H.; Nagel, Ronald L.; Lawrence, Christine; Swaminathan, Venkataramani; Lu, Zhi-Hong; Plonczynski, Maria; Harrell, Audrey

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 289 KB
• Volume: 52
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(199607)52:3<189::aid-ajh9>3.0.co;2-p

✦ Synopsis

We asked the question, is the haplotype found with the sickle hemoglobin gene associated with different hematological characteristics in patients who were combined heterozygotes for sickle hemoglobin and hemoglobin C (Hb SC disease)? In 73 adults with Hb SC disease, a Benin haplotype chromosome was present in 56%, and Bantu (or Central African Republic; CAR), Senegal, and atypical haplotype chromosomes were found in 25%, 6%, and 12%, respectively. No significant differences were found in hematological characteristics or fetal hemoglobin levels of patients with BeninlC, CARIC, Senegal& and atypicallc haplotypes. There were 71% C I, 18% C II, and 11% other p" haplotypes. Fetal hemoglobin levels are lower in Hb SC disease than in sickle-cell anemia. Perhaps because haplotype has no discernible effect on fetal hemoglobin level in Hb SC disease, it does not modulate its hematological features.