TY - JOUR
T1 - A newly discovered βdeg;thalassemia (IVS-11-850, g→a) mutation in a north european family
AU - Çürük, M. A.
AU - Howard, S. C.
AU - Kutlar, A.
AU - Huisman, T. H.J.
N1 - Funding Information:
The authors appreciate the cooperation of the members of this family. This study was supported by the United States Public Health Services research grant HLB-05168 (to THJH).
PY - 1995
Y1 - 1995
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.
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U2 - 10.3109/03630269509036942
DO - 10.3109/03630269509036942
M3 - Article
C2 - 7558878
AN - SCOPUS:0029059138
SN - 0363-0269
VL - 19
SP - 207
EP - 211
JO - Hemoglobin
JF - Hemoglobin
IS - 3-4
ER -