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The frequency of the γ chain variant AγT in different populations, and its use in evaluating γ gene expression in association with thalassemia
SummaryThe occurrence of the AγT chain (i.e. Aγ75 Ile→ Thr) in different populations was evaluated through a study of 4250 cord blood samples and blood samples from more than 350 SS1 patients. High… Expand
Detection of a new hybrid α2 globin gene among American Blacks
SummaryWe have examined the α globin gene complex for 49 individuals with α-thalassemia-2 (−α3.7). Crossovers resulting in α-thalassemia-2 (type I) were observed in all 57 chromosomes with the −α3.7… Expand
Seven Pyruvate Kinase Variants Characterized by the ICSH Recommended Methods
- S. Miwa, H. Fujii, +4 authors N. Ninomiya
- Biology, Medicine
- British journal of haematology
- 1 August 1980
Summary Seven new red‐cell pyruvate kinase (PK) variants were characterized by the methods recently recommended by the International Committee for Standardization in Haematology. The cases were all… Expand
Incidence and characteristics of glucose-6-phosphate dehydrogenase variants in Japan
SummaryA total of 3000 men living in Yamaguchi were screened for glucose-6-phosphate dehydrogenase (G6PD) deficiency using Beutler's spot test and three types of starch gel electrophoresis. These… Expand
GγAγ(δβ)°‐thalassaemia and a new form of γ globin gene triplication identified in the Yugoslavian population
Among several hundred apparently healthy Yugoslavian adults with slightly elevated levels of fetal haemoglobin, we have identified two distinct abnormalities, (a) A GγAγ(δβ)°‐thalassaemia… Expand
Hb F-Kennestone or α2Gγ2 (EF1)77 His → Arg Observed in a Caucasian Baby
During our continuing attempts to characterize fetal hemoglobins (Hb F) with abnormal γ chains and abnormality was observed in a Caucasian female newborn which upon further analysis was found to be a… Expand
(A gamma delta beta)0-Thalassaemia in Blacks is due to a deletion of 34 kbp of DNA.
DNA from members of 10 Black families with conditions considered to be G gamma (delta beta)0-thalassaemia or G gamma (delta beta)0-HPFH were studied by using restriction enzyme analysis. One or more… Expand
The frequency of the gamma chain variant A gamma T in different populations, and its use in evaluating gamma gene expression in association with thalassemia.
The occurrence of the A gamma T chain (i.e. A gamma 75 Ile----Thr) in different populations was evaluated through a study of 4250 cord blood samples and blood samples from more than 350 SS patients.… Expand
Gamma thalassemia resulting from the deletion of a gamma-globin gene
- P. Sukumaran, T. Nakatsuji, M. Gardiner, A. Reese, J. Gilman, T. Huisman
- Biology, Medicine
- Nucleic Acids Res.
- 11 July 1983
The first example of a deletion of one of the two gamma globin genes has been characterized through an analysis of the DNA of the heterozygous parent of a homozygous newborn, using restriction endonuclease mapping techniques. Expand
Hb Etobicoke, alpha 85(F5) Ser leads to Arg found in a newborn of French-Indian-English descent.
During a recent testing program for hemoglobin (Hb) abnormalities in cord bloods of newborns in the State of Georgian an α-chain variant was discovered in a male Caucasian infant of French-Cherokee… Expand