Molecular diagnosis of a case of Hb Phnom Penh [alpha117(GH5)Phe-I1e-alpha118(H1)Thr (alpha1)].

Authors :: Leung RY
Ma ES
Chan AY
Chow EY
Source :: Hemoglobin [Hemoglobin] 2006; Vol. 30 (3), pp. 397-9.
Publication Year :: 2006
Abstract: We report the first case of Hb Phnom Penh where a molecular study was done on the patient's sample. The result confirmed the predicted DNA sequence change involved in the mutation, which was delineated by another group in 1998 using amino acid analysis.

Subjects :: Adult
Blood Protein Electrophoresis methods
Chromatography, High Pressure Liquid
Female
Globins chemistry
Hemoglobins, Abnormal chemistry
Humans
Pregnancy
Sequence Analysis, DNA
Anemia, Hypochromic genetics
Genetic Carrier Screening methods
Globins genetics
Hemoglobins, Abnormal genetics

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