-Globin gene haplotype in Hb SC disease

Martin H. Steinberg, Ronald L. Nagel, Christine Lawrence, Venkataramani Swaminathan, Zhi Hong Lu, Maria Plonczynski, Audrey Harrell

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

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 Benin/C, CAR/C, Senegal/C, and atypical/C haplotypes. There were 71% C I, 18% C II, and 11% other β(c) 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.

Original languageEnglish
Pages (from-to)189-191
Number of pages3
JournalAmerican journal of hematology
Volume52
Issue number3
DOIs
StatePublished - 1996

Keywords

  • Hemoglobinopathy
  • Sickle hemoglobin
  • Sickle-cell disease

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