DNA diagnosis of Hb S and Hb Caribbean (α₂β₂⁹¹ Leu→Arg) in a Jamaican family Journal Articles

abstract

• AbstractWe describe a Canadian infant of Jamaican descent who presented with mild anemia. Hb electrophoresis revealed Hb S and an unknown Hb variant that migrated slightly faster than Hb S on cellulose acetate. Molecular studies of the family indicated that the proband is a compound heterozygote for Hb S and Hb Caribbean. Hb Caribbean has previously been characterized as a mildly unstable hemoglobin with low oxygen affinity, due to a Leu→Arg substitution at amino acid residue 91. The present study establishes the molecular basis for Hb Caribbean (β91, CTG→CGG) and confirms that Hb S/Hb Caribbean syndrome is not associated with serious clinical manifestations. © 1994 Wiley‐Liss, Inc.

authors

• Waye, John
• Patterson, Margaret
• Eng, Barry
• Chui, David Hing-kwei
• Sher, Graham D
• Olivieri, Nancy F

status

• published 

publication date

• September 1994

has subject area

• 1102 Cardiorespiratory Medicine and Haematology (FoR)
• Adult (MeSH)
• Base Sequence (MeSH)
• DNA (MeSH)
• Female (MeSH)
• Genetic Variation (MeSH)
• Hemoglobin, Sickle (MeSH)
• Hemoglobins, Abnormal (MeSH)
• Heterozygote (MeSH)
• Humans (MeSH)
• Immunology (Science Metrix)
• Infant (MeSH)
• Jamaica (MeSH)
• Male (MeSH)
• Molecular Sequence Data (MeSH)

published in

• American Journal of Hematology  Journal

keywords

• Adult
• Base Sequence
• DNA
• Female
• Genetic Variation
• Hemoglobin, Sickle
• Hemoglobins, Abnormal
• Heterozygote
• Humans
• Infant
• Jamaica
• Male
• Molecular Sequence Data

Digital Object Identifier (DOI)

• 10.1002/ajh.2830470107

PubMed ID

• 8042613

start page

• 33

end page

• 35

volume

• 47

issue

• 1