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 language | English (US) |
|---|---|
| Pages (from-to) | 207-211 |
| Number of pages | 5 |
| Journal | Hemoglobin |
| Volume | 19 |
| Issue number | 3-4 |
| DOIs | |
| State | Published - Jan 1 1995 |
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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 journal › Article
}
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.
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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 -