Molecular diagnosis of a case of Hb Phnom Penh [alpha117(GH5)Phe-I1e-alpha118(H1)Thr (alpha1)].
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.
Leung
Rock Y-Y
RY
Pathology Department, United Christian Hospital, Hong Kong. yyleunguch@hotmail.com
Ma
Edmond S-K
ES
Chan
Amy Y-Y
AY
Chow
Eudora Y-D
EY
D000328:Adult; D000747:Anemia, Hypochromic / Q000235:genetics*; D001797:Blood Protein Electrophoresis / Q000379:methods; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D017422:Sequence Analysis, DNA
D006455:Hemoglobins, Abnormal; C119639:hemoglobin Phnom Penh; D005914:Globins