Detection of specific beta-globin mutations in Kurdish Jews with beta-thalassemia. 1988

A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
Department of Hematology, Hadassah University Hospital, Jerusalem, Israel.

Patients with beta-thalassemia, of Kurdish extraction, were screened for the presence of two mutations, in the TATA box and in codon 44, previously discovered in this ethnic isolate. Of the 56 chromosomes analyzed, 13 were found to carry the TATA box mutation and 17 the codon 44 mutation. The result of this work provides a basis for a more efficient prenatal diagnosis program for this community.

UI MeSH Term Description Entries
D007557 Israel A country in the Middle East, bordering the Mediterranean Sea, between Egypt and Lebanon. The capital is Jerusalem.
D007585 Jews An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM. Jew
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013789 Thalassemia A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia. Thalassemias

Related Publications

A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
November 1978, Israel journal of medical sciences,
A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
October 1978, Blood,
A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
January 1973, Israel journal of medical sciences,
A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
January 1977, Hemoglobin,
A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
January 1988, Biochimica et biophysica acta,
A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
January 2014, Mediterranean journal of hematology and infectious diseases,
A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
June 1985, The Journal of biological chemistry,
A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
December 2011, Turkish journal of haematology : official journal of Turkish Society of Haematology,
A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
August 1980, Cell,
A Oppenheim, and S Cohen, and A Goldfarb, and J Katzhendler, and J Deutsch, and E A Rachmilewitz
January 2009, Hemoglobin,
Copied contents to your clipboard!