Homozygosity for a new type of gγaγdelta;beta;deg;thalassemia in a malaysian Male

K. Faridah; E. George; R. J. Trent; B. J. Padanilam; H. J.J. Huang; T. H.J. Huisman

doi:10.3109/03630268608996867

Homozygosity for a new type of ^gγ^aγdelta;beta;deg;thalassemia in a malaysian Male

K. Faridah, E. George, R. J. Trent, B. J. Padanilam, H. J.J. Huang, T. H.J. Huisman

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Abstract

Hematological and clinical data are presented for a young Malay patient with a homozygous (δbeta;deg;thalas- semic condition. His red blood cells contained 1007% fetal hemoglobin with α and ^Gγ chains only. Detailed gene mapping defined a large deletion with a 5' end between the Aha III and Apa I sites, some 200-400 bp 5' to the ^Aγ globin gene and a 3' end beyond sequences 17-18 kb 3' to the β globin gene. This ^Gγ^Aγdelta;beta;deg;type of thalassemia is different from all the other six types described before. Comparison of the hematological data of this patient with those of homozygotes for either the Sicilian or Spanish types of ^Gγ^Aγdelta;beta;deg;thalassemia showed no differences; all homozygotes have a moderate anemia which is accentuated by the relatively high oxygen affinity of the Hb F containing erythrocytes.

Original language	English (US)
Pages (from-to)	353-363
Number of pages	11
Journal	Hemoglobin
Volume	10
Issue number	4
DOIs	https://doi.org/10.3109/03630268608996867
State	Published - 1986
Externally published	Yes

ASJC Scopus subject areas

Hematology
Genetics(clinical)
Clinical Biochemistry
Biochemistry, medical

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title = "Homozygosity for a new type of gγaγdelta;beta;deg;thalassemia in a malaysian Male",

abstract = "Hematological and clinical data are presented for a young Malay patient with a homozygous (δbeta;deg;thalas- semic condition. His red blood cells contained 1007% fetal hemoglobin with α and Gγ chains only. Detailed gene mapping defined a large deletion with a 5' end between the Aha III and Apa I sites, some 200-400 bp 5' to the Aγ globin gene and a 3' end beyond sequences 17-18 kb 3' to the β globin gene. This GγAγdelta;beta;deg;type of thalassemia is different from all the other six types described before. Comparison of the hematological data of this patient with those of homozygotes for either the Sicilian or Spanish types of GγAγdelta;beta;deg;thalassemia showed no differences; all homozygotes have a moderate anemia which is accentuated by the relatively high oxygen affinity of the Hb F containing erythrocytes.",

author = "K. Faridah and E. George and Trent, {R. J.} and Padanilam, {B. J.} and Huang, {H. J.J.} and Huisman, {T. H.J.}",

note = "Funding Information: The authors are indebted to Dr. F. Kutlar for the chain analysis. This research was in part supported by USPHS Research Grant HLB-05168. This is contribution PO956 of the Department of Cell and Molecular Biology at the Medical College of Georgia in Augusta, Georgia.",

year = "1986",

doi = "10.3109/03630268608996867",

language = "English (US)",

volume = "10",

pages = "353--363",

journal = "Hemoglobin",

issn = "0363-0269",

publisher = "Informa Healthcare",

number = "4",

}

TY - JOUR

T1 - Homozygosity for a new type of gγaγdelta;beta;deg;thalassemia in a malaysian Male

AU - Faridah, K.

AU - George, E.

AU - Trent, R. J.

AU - Padanilam, B. J.

AU - Huang, H. J.J.

AU - Huisman, T. H.J.

N1 - Funding Information: The authors are indebted to Dr. F. Kutlar for the chain analysis. This research was in part supported by USPHS Research Grant HLB-05168. This is contribution PO956 of the Department of Cell and Molecular Biology at the Medical College of Georgia in Augusta, Georgia.

PY - 1986

Y1 - 1986

N2 - Hematological and clinical data are presented for a young Malay patient with a homozygous (δbeta;deg;thalas- semic condition. His red blood cells contained 1007% fetal hemoglobin with α and Gγ chains only. Detailed gene mapping defined a large deletion with a 5' end between the Aha III and Apa I sites, some 200-400 bp 5' to the Aγ globin gene and a 3' end beyond sequences 17-18 kb 3' to the β globin gene. This GγAγdelta;beta;deg;type of thalassemia is different from all the other six types described before. Comparison of the hematological data of this patient with those of homozygotes for either the Sicilian or Spanish types of GγAγdelta;beta;deg;thalassemia showed no differences; all homozygotes have a moderate anemia which is accentuated by the relatively high oxygen affinity of the Hb F containing erythrocytes.

AB - Hematological and clinical data are presented for a young Malay patient with a homozygous (δbeta;deg;thalas- semic condition. His red blood cells contained 1007% fetal hemoglobin with α and Gγ chains only. Detailed gene mapping defined a large deletion with a 5' end between the Aha III and Apa I sites, some 200-400 bp 5' to the Aγ globin gene and a 3' end beyond sequences 17-18 kb 3' to the β globin gene. This GγAγdelta;beta;deg;type of thalassemia is different from all the other six types described before. Comparison of the hematological data of this patient with those of homozygotes for either the Sicilian or Spanish types of GγAγdelta;beta;deg;thalassemia showed no differences; all homozygotes have a moderate anemia which is accentuated by the relatively high oxygen affinity of the Hb F containing erythrocytes.

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SN - 0363-0269

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JF - Hemoglobin

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Homozygosity for a new type of ^gγ^aγdelta;beta;deg;thalassemia in a malaysian Male

Abstract

ASJC Scopus subject areas

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