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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 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 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.

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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.

A programme for the prevention of beta-homozygous thalassaemia has been operating in Cyprus from 1973. From 1976 there has been an increasing gap between the number of homozygotes born and the number expected, calculated as 1 in 135 of the total births. In 1978 23 homozygotes are known to have been born compared with 71 […]

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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 Five Cypriots homozygous for beta +-thalassaemia have inherited deletion or non-deletion forms of alpha-thalassaemia that seem to have modified the usually severe clinical picture to that of mild thalassaemia intermedia. These observations have important implications for the antenatal diagnosis of beta-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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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 A study, which was intended to find out the main causes of defective vision among Kuwaiti students, yielded the following results: The percentage of defective vision among 139,769 Kuwaiti students is 0.099%. Hereditary and genetic causes are responsible for 75.5% of the cases. Recessive inheritance account for 36.2% Autosomal dominant account for […]

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