Molecular basis of hemoglobin-H disease in the Mediterranean population
- PMID: 508946
Item in Clipboard
Molecular basis of hemoglobin-H disease in the Mediterranean population
Blood.
1979 Dec.
Free article
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 a "dysfunctional" gene in one. We conclude that the predominant cause of alpha-thalassemia in these populations is gene deletion.
Similar articles
-
A molecular basis for hemoglobin-H disease in American blacks.Blood. 1979 Dec;54(6):1439-45. Blood. 1979. PMID: 508947
-
Genetic and molecular diversity in nondeletion Hb H disease.Proc Natl Acad Sci U S A. 1981 Sep;78(9):5833-7. doi: 10.1073/pnas.78.9.5833. Proc Natl Acad Sci U S A. 1981. PMID: 6272319 Free PMC article.
-
Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypes.Am J Hum Genet. 1986 Nov;39(5):631-9. Am J Hum Genet. 1986. PMID: 2878610 Free PMC article.
-
Molecular genetics of human hemoglobin synthesis.Ann Intern Med. 1979 Oct;91(4):605-16. doi: 10.7326/0003-4819-91-4-605. Ann Intern Med. 1979. PMID: 384860 Review.
-
Molecular pathology of alpha-thalassemia.Birth Defects Orig Artic Ser. 1982;18(7):35-44. Birth Defects Orig Artic Ser. 1982. PMID: 6760927 Review. No abstract available.
Cited by
-
DNA polymorphism and molecular pathology of the human globin gene clusters.Hum Genet. 1985;69(1):1-14. doi: 10.1007/BF00295521. Hum Genet. 1985. PMID: 3881334 Review.
-
Prenatal diagnosis of alpha-thalassemia by polymerase chain reaction and dual restriction enzyme analysis.Hum Genet. 1990 Aug;85(3):293-9. doi: 10.1007/BF00206749. Hum Genet. 1990. PMID: 1975558
-
The thalassemias: molecular mechanisms of human genetic disease.Am J Hum Genet. 1983 May;35(3):333-61. Am J Hum Genet. 1983. PMID: 6407302 Free PMC article. Review. No abstract available.
-
Haemoglobin Bart's hydrops syndrome in Greece.Br Med J. 1980 Jul 26;281(6235):268-70. doi: 10.1136/bmj.281.6235.268. Br Med J. 1980. PMID: 7427238 Free PMC article.
-
alpha-Thalassaemia in Sardinian infants.J Med Genet. 1980 Oct;17(5):357-62. doi: 10.1136/jmg.17.5.357. J Med Genet. 1980. PMID: 7218276 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
