TY - JOUR
T1 - Molecular characterization of Hb D-Ibadan [β87(F3)Thr→Lys] in combination with Hb S [β6(A3)Glu→Val] and with β+-thalassemia
T2 - Report of two cases
AU - Redding-Lallinger, Rupa
AU - Tankut, Gaye
AU - Holley, Leslie
AU - Wright, Frances
AU - Kutlar, Abdullah
AU - Kutlar, Ferdane
PY - 2002
Y1 - 2002
N2 - Hb D-lbadan [β87(F3)Thr→Lys] is a common variant in the Nigerian population, which has been reported in association with Hb S [β6(A3)Glu→Val] and with β-thalassemia. Unlike the Hb S/Hb D-Los Angeles [β121(GH4)Glu→Gln] combination, compound heterozygosity for Hb D-Ibadan and Hb S does not result in a sickling disorder. We report the first case of a combination of Hb D-Ibadan with β+-thalassemia, and the first observation of Hb S/Hb D-Ibadan in the African-American population. In both cases, the characterization of Hb D-Ibadan was achieved by sequencing of the genomic DNA. Although protein based methods such as isoelectrofocusing and high performance liquid chromatography may suggest that the "D-like" variant is different from Hb D-Los Angeles, the definitive identification of the variant by structural analysis or molecular genetic methods should be undertaken, particularly in newborn screening programs when the variant is found in combination with Hb S.
AB - Hb D-lbadan [β87(F3)Thr→Lys] is a common variant in the Nigerian population, which has been reported in association with Hb S [β6(A3)Glu→Val] and with β-thalassemia. Unlike the Hb S/Hb D-Los Angeles [β121(GH4)Glu→Gln] combination, compound heterozygosity for Hb D-Ibadan and Hb S does not result in a sickling disorder. We report the first case of a combination of Hb D-Ibadan with β+-thalassemia, and the first observation of Hb S/Hb D-Ibadan in the African-American population. In both cases, the characterization of Hb D-Ibadan was achieved by sequencing of the genomic DNA. Although protein based methods such as isoelectrofocusing and high performance liquid chromatography may suggest that the "D-like" variant is different from Hb D-Los Angeles, the definitive identification of the variant by structural analysis or molecular genetic methods should be undertaken, particularly in newborn screening programs when the variant is found in combination with Hb S.
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U2 - 10.1081/HEM-120005450
DO - 10.1081/HEM-120005450
M3 - Article
C2 - 12144055
AN - SCOPUS:0036068647
SN - 0363-0269
VL - 26
SP - 129
EP - 134
JO - Hemoglobin
JF - Hemoglobin
IS - 2
ER -