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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Abstract In order to gain understanding of some of the problems of genetic counseling for a severe recessive disease in England, a Greek Cypriot extended family including 87 living members and known to be transmitting a beta-thalassaemia gene was investigated for the extent and the sources of their knowledge about thalassaemia. 42% of […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Abstract We have identified 12 individuals who are heterozygous for a chromosome with three alpha-globin genes. We determined the presence of the third alpha-globin locus by restriction endonuclease digestion and hybridization with alpha-globin cDNA probes. The three alpha-globin loci resided in an elongated fragment on digestion with EcoRI, BamHI, and Xba I, and […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Abstract We investigated the molecular basis of hemoglobin-H disease by hybridization and restriction endonuclease mapping of the DNA in the Mediterranean populations. Of the 12 patients studied from Cyprus and Sardinia, 8 had the typical deletion defect with a single remaining alpha-globin gene. The nondeletion type of alpha-thalassemia was found in 3, and […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Abstract Haemoglobin Bart’s was detected and quantitated in 42 babies during a survey of cord blood from neonates of Mediterranean origin. The distribution of Hb Bart’s levels for the group appeared to be bi-modal, with modes at 2.0% and 5.5%. Haematological data obtained from 21 babies during the first week of life showed […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Abstract The frequency of alpha-thalassaemia in Cyprus was determined with studies of haemoglobin Bart’s in 1200 Greek Cypriot and 132 Turkish Cypriot newborn babies. Of the Greek newborns, 12.4%, and of the Turkish newborns, 6.8% had raised Hb Bart’s (from 0.6% to 12.9% of the total haemoglobin) suggesting that they were carriers of […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Abstract 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 […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Abstract Much of the clinical variability in the course of homozygous beta thalassaemia in the Cypriot population can be accounted for by the interaction of alpha thalassaemia and by the existence of different molecular forms of beta thalassaemia. Most severe forms of the disorder result from the homozygous state for the common Mediterranean […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Abstract Restriction endonuclease analysis has been performed on the alpha and beta globin gene clusters of 57 Cypriots homozygous for beta thalassaemia, 30 with the transfusion dependent form of the condition (thalassaemia major) and 27 who are less severely affected (thalassaemia intermedia). There was a significant difference in the incidence of alpha thalassaemia […]

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Abstract

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Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Author information: Abstract

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