Haplotypes of βs chromosomes among patients with sickle cell anemia from Georgia

Y. Hattori, F. Kutlar, A. Kutlar, V. C. Mckie, T. H.J. Huisman

Research output: Contribution to journalArticlepeer-review

73 Scopus citations


Fetal hemoglobin and Gγ levels have been correlated with the presence or absence of eight restriction sites within the β globin gene cluster (haplotypes) for numerous sickle cell anemia patients from Georgia. The most common haplotypes were 19 (Benin) and 20 (CAR); all patients with haplotype combinations 19/19, 20/20, and 19/20 were severely affected with low Hb F and low Gγ levels. A modified 19 βS chromosome with a -GγGγ globin gene arrangement, instead of -GγAγ was present in SS and SC newborn babies with Gγ values above 80% Haplotype 3 (Senegal) was present among 15% of the βS chromosomes; the two adult patients with the 3/3 combination were mildly affected with high Hb F and Gγ values. The haplotype AT with the variant AγT chain was a rarity. A new haplotype was found in one 17-year-old SS patient and five of his Hb S heterozygous relatives. This haplotype is associated with an increased production of Hb F in heterozygous and homozygous Hb S individuals; this Hb F contained primarily Aγ chains. A comparison was made between the different haplotypes among SS patients and normal Black individuals, and a remarkable similarity was noted in the fetal hemoglobin data for subjects with these different chromosomes.

Original languageEnglish (US)
Pages (from-to)623-642
Number of pages20
Issue number6
StatePublished - 1986

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical


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