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

Y. Hattori, Ferdane Kutlar, Abdullah Kutlar, V. C. Mckie, T. H.J. Huisman

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

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
JournalHemoglobin
Volume10
Issue number6
DOIs
StatePublished - Jan 1 1986

Fingerprint

Sickle Cell Anemia
Chromosomes
Haplotypes
Fetal Hemoglobin
Globins
Genes
Benin
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 15
Senegal
Gene Order
Multigene Family
Newborn Infant

ASJC Scopus subject areas

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

Cite this

Haplotypes of βs chromosomes among patients with sickle cell anemia from Georgia. / Hattori, Y.; Kutlar, Ferdane; Kutlar, Abdullah; Mckie, V. C.; Huisman, T. H.J.

In: Hemoglobin, Vol. 10, No. 6, 01.01.1986, p. 623-642.

Research output: Contribution to journalArticle

Hattori, Y. ; Kutlar, Ferdane ; Kutlar, Abdullah ; Mckie, V. C. ; Huisman, T. H.J. / Haplotypes of βs chromosomes among patients with sickle cell anemia from Georgia. In: Hemoglobin. 1986 ; Vol. 10, No. 6. pp. 623-642.
@article{ad4ab5468fe24cb7b6cd4bb35585f294,
title = "Haplotypes of βs chromosomes among patients with sickle cell anemia from Georgia",
abstract = "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.",
author = "Y. Hattori and Ferdane Kutlar and Abdullah Kutlar and Mckie, {V. C.} and Huisman, {T. H.J.}",
year = "1986",
month = "1",
day = "1",
doi = "10.3109/03630268609036566",
language = "English (US)",
volume = "10",
pages = "623--642",
journal = "Hemoglobin",
issn = "0363-0269",
publisher = "Informa Healthcare",
number = "6",

}

TY - JOUR

T1 - Haplotypes of βs chromosomes among patients with sickle cell anemia from Georgia

AU - Hattori, Y.

AU - Kutlar, Ferdane

AU - Kutlar, Abdullah

AU - Mckie, V. C.

AU - Huisman, T. H.J.

PY - 1986/1/1

Y1 - 1986/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0022878725&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022878725&partnerID=8YFLogxK

U2 - 10.3109/03630268609036566

DO - 10.3109/03630268609036566

M3 - Article

VL - 10

SP - 623

EP - 642

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 6

ER -