Haemoglobin Lepore in Cyprus.
نویسندگان
چکیده
منابع مشابه
Haemoglobin Lepore in Cyprus.
Structural analysis documented the presence of haemoglobin LeporeWashington (=LeporeBoston) in a Greek Cypriot family and provided further evidence that, of the various types of Lepore mutants, only one is common in the Mediterranean area. Two individuals in this family were heterozygous for both Hb Lepore and beta thalassaemia, but they exhibited striking differences in the clinical severity a...
متن کاملHaemoglobin Lepore Boston-Washington in Sicily: clinical, haematological, and biosynthetic studies.
In the south-east of Sicily 23 children from 14 unrelated families have been diagnosed as suffering from haemoglobin Lepore. Such a high incidence shows that Sicily is an important focus of haemoglobin Lepore. The results of haematological and biosynthetic studies in 18 carriers of Hb Lepore and in five double heterozygotes for Hb Lepore and beta-thalassaemia are presented. In the carriers the ...
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A 2-year-old Malay boy was brought to the University Malaya Medical Centre for thalassaemia screening. Physical examination revealed thalassaemia facies, pallor, mild jaundice, hepatomegaly and splenomegaly. Laboratory investigations on the patient including studies on the parents lead to a presumptive diagnosis of homozygous Haemoglobin Lepore (Hb Lepore). The aim of this paper is to increase ...
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A family is presented in which Hb Lepore Boston was found in six individuals over three generations. The gene must have had its origin either in Java (Indonesia) or in what is now the Federal Republic of Germany. The haemoglobin was characterized by amino-acid analysis of the six tryptic peptides that have a different composition in the beta- and the delta-chain. The ratio of glycine to alanine...
متن کاملHemoglobin Lepore,,,. in Two Iranian Families
L EPORE HEMOGLOBINS are the result of unequal crossing over between structural genes coding for #{244} and f3 polypeptide chains of human hemoglobin during melosis. The abnormal polypeptide chain #{244} 3 produced after this crossing over has part of the 5 chain at its N terminus, and the remaining part is similar to the i chain.’ The point of fusion of the two polypeptide chains and the propor...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1975
ISSN: 1468-6244
DOI: 10.1136/jmg.12.3.275