Hb E/Hb Lepore_Hollandia in a family from Bangladesh Journal Articles

abstract

• AbstractWe describe a family from Bangladesh in which three children are compound heterozy‐gotes for Hb E (α2β2, β26Glu Lys) and Hb Lepore (δ‐β fusion gene). PCR amplification and direct nucleotide sequencing established that the fusion gene is Hb LeporeHollandia, with the cross‐over localized to a 40 bp window between codon 22 and IVS‐1 nt 16 of the δ‐ and β‐globin genes. This unusual combination of mutations is associated with a relatively mild clinical phenotype, with all three affected siblings having microcytic anemia of moderate severity without the need for transfusions. © 1994 Wiley‐Liss, Inc.

authors

• Waye, John
• Eng, Barry
• Patterson, Margaret
• Chui, David Hing-kwei
• Chang, Lebe S
• Cogionis, Bessie
• Poon, Annette O
• Olivieri, Nancy F

status

• published 

publication date

• December 1994

has subject area

• 1102 Cardiorespiratory Medicine and Haematology (FoR)
• Bangladesh (MeSH)
• Base Sequence (MeSH)
• DNA Primers (MeSH)
• Female (MeSH)
• Genes (MeSH)
• Globins (MeSH)
• Hemoglobin E (MeSH)
• Hemoglobins, Abnormal (MeSH)
• Heterozygote (MeSH)
• Humans (MeSH)
• Immunology (Science Metrix)
• Male (MeSH)
• Molecular Sequence Data (MeSH)
• Pedigree (MeSH)
• Sequence Deletion (MeSH)

published in

• American Journal of Hematology  Journal

keywords

• Bangladesh
• Base Sequence
• DNA Primers
• Female
• Genes
• Globins
• Hemoglobin E
• Hemoglobins, Abnormal
• Heterozygote
• Humans
• Male
• Molecular Sequence Data
• Pedigree
• Sequence Deletion

Digital Object Identifier (DOI)

• 10.1002/ajh.2830470403

PubMed ID

• 7977297

start page

• 262

end page

• 265

volume

• 47

issue

• 4