Hb Hope [beta136(H14)Gly-->Asp (GGT-->GAT)]: interactions with Hb S [beta6(A3)Glu-->Val (GAG-->GTG)], other variant hemoglobins and thalassemia.
Hb Hope [beta136(H14)Gly-->Asp (GGT-->GAT)] was first described in an African-American family in 1965. Since then, it has been found in combination with several different globin gene mutations in many other families of divergent ethnic backgrounds. The basis for its relatively frequent occurrences remains unexplained. This variant hemoglobin (Hb) is mildly unstable and has reduced oxygen affinity, but is generally innocuous clinically. This variant Hb can present as a confounding factor in arriving at a correct diagnosis by either electrophoresis or high performance liquid chromatography (HPLC), particularly during the neonatal period. DNA-based diagnostics can help solve this potential problem.
Ingle
John
J
Department of Medicine and Pathology, Division of Hematology/Oncology, Boston University School of Medicine, Boston, Massachusetts, USA.
Adewoye
Adeboye
A
Dewan
Robert
R
Okoli
Michael
M
Rollins
Lamarr
L
Eung
Shawn H
SH
Luo
Hong-Yuan
HY
Chui
David H K
DH
Steinberg
Martin H
MH
D005006:Ethnicity; D006451:Hemoglobin, Sickle / Q000235:genetics* / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C038623:hemoglobin Hope