HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated with G gamma-thalassemia.

Abstract

Restriction endonuclease and analyses of DNA from a known Hb F-Yamaguchi heterozygote and three of his relatives have shown a deletion of about 5 kb, which includes one of the gamma genes. This abnormality is similar to the G gamma-thalassemia described recently [4] and is probably caused by an unequal crossing over between-G gamma- and -A gamma T-genes. The abnormal-G gamma A gamma T-X-(X = Asp leads to Asn at gamma 80) hybrid gene produces the gamma-Yamaguchi chain at a level usually seen for G gamma chains only.

• Authors: T Nakatsuji, Y Ohba, T H Huisman
• Journal: American journal of hematology (Am J Hematol) Vol. 16 Issue 2 Pg. 189-92 (Feb 1984) ISSN: 0361-8609 [Print] United States
• PMID: 6198905 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin F Yamaguchi
• Fetal Hemoglobin
• DNA Restriction Enzymes

Topics

• Child, Preschool
• DNA Restriction Enzymes
• Fetal Hemoglobin (analysis)
• Hemoglobins, Abnormal (analysis)
• Humans
• Male
• Thalassemia (blood, genetics)