A newly discovered βdeg;thalassemia (IVS-11-850, g→a) mutation in a north european family

M. A. Çudie;rük, S. C. Howard, Abdullah Kutlar, T. H.J. Huisman

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

βThalassemia (thal) is one of the most common genetic disorders in the world and is caused by specific mutations within the βglobin gene and, less frequently, by the deletion of (part of) the β gene. A recently published list of alleles mentions over 160 point mutations and frameshifts, and more than 10 large deletions (1). βThal is common among Mediterranean populations, the Middle East, India, and the Far Eastern countries, but is rarely seen in North Europeans except for alleles which originated from the listed countries (2). Only a few, rare, mutations have been found in British persons; here we provide a short description of an American family of English-Scottish descent with six members having a βthal heterozygosity.

Original languageEnglish (US)
Pages (from-to)207-211
Number of pages5
JournalHemoglobin
Volume19
Issue number3-4
DOIs
StatePublished - Jan 1 1995

Fingerprint

Thalassemia
Genes
Alleles
Mutation
Inborn Genetic Diseases
Middle East
Globins
Gene Deletion
Point Mutation
India
Population

ASJC Scopus subject areas

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

Cite this

A newly discovered βdeg;thalassemia (IVS-11-850, g→a) mutation in a north european family. / Çudie;rük, M. A.; Howard, S. C.; Kutlar, Abdullah; Huisman, T. H.J.

In: Hemoglobin, Vol. 19, No. 3-4, 01.01.1995, p. 207-211.

Research output: Contribution to journalArticle

Çudie;rük, M. A. ; Howard, S. C. ; Kutlar, Abdullah ; Huisman, T. H.J. / A newly discovered βdeg;thalassemia (IVS-11-850, g→a) mutation in a north european family. In: Hemoglobin. 1995 ; Vol. 19, No. 3-4. pp. 207-211.
@article{15d2dbb5206146b0b0d1a0247b162f9e,
title = "A newly discovered βdeg;thalassemia (IVS-11-850, g→a) mutation in a north european family",
abstract = "βThalassemia (thal) is one of the most common genetic disorders in the world and is caused by specific mutations within the βglobin gene and, less frequently, by the deletion of (part of) the β gene. A recently published list of alleles mentions over 160 point mutations and frameshifts, and more than 10 large deletions (1). βThal is common among Mediterranean populations, the Middle East, India, and the Far Eastern countries, but is rarely seen in North Europeans except for alleles which originated from the listed countries (2). Only a few, rare, mutations have been found in British persons; here we provide a short description of an American family of English-Scottish descent with six members having a βthal heterozygosity.",
author = "{\cC}udie;r{\"u}k, {M. A.} and Howard, {S. C.} and Abdullah Kutlar and Huisman, {T. H.J.}",
year = "1995",
month = "1",
day = "1",
doi = "10.3109/03630269509036942",
language = "English (US)",
volume = "19",
pages = "207--211",
journal = "Hemoglobin",
issn = "0363-0269",
publisher = "Informa Healthcare",
number = "3-4",

}

TY - JOUR

T1 - A newly discovered βdeg;thalassemia (IVS-11-850, g→a) mutation in a north european family

AU - Çudie;rük, M. A.

AU - Howard, S. C.

AU - Kutlar, Abdullah

AU - Huisman, T. H.J.

PY - 1995/1/1

Y1 - 1995/1/1

N2 - βThalassemia (thal) is one of the most common genetic disorders in the world and is caused by specific mutations within the βglobin gene and, less frequently, by the deletion of (part of) the β gene. A recently published list of alleles mentions over 160 point mutations and frameshifts, and more than 10 large deletions (1). βThal is common among Mediterranean populations, the Middle East, India, and the Far Eastern countries, but is rarely seen in North Europeans except for alleles which originated from the listed countries (2). Only a few, rare, mutations have been found in British persons; here we provide a short description of an American family of English-Scottish descent with six members having a βthal heterozygosity.

AB - βThalassemia (thal) is one of the most common genetic disorders in the world and is caused by specific mutations within the βglobin gene and, less frequently, by the deletion of (part of) the β gene. A recently published list of alleles mentions over 160 point mutations and frameshifts, and more than 10 large deletions (1). βThal is common among Mediterranean populations, the Middle East, India, and the Far Eastern countries, but is rarely seen in North Europeans except for alleles which originated from the listed countries (2). Only a few, rare, mutations have been found in British persons; here we provide a short description of an American family of English-Scottish descent with six members having a βthal heterozygosity.

UR - http://www.scopus.com/inward/record.url?scp=0029059138&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029059138&partnerID=8YFLogxK

U2 - 10.3109/03630269509036942

DO - 10.3109/03630269509036942

M3 - Article

VL - 19

SP - 207

EP - 211

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 3-4

ER -