Kamseng Parin, Trakulsrichai Satariya, Trachoo Objoon, Yimniam Walaiporn, Panthan Bhakbhoom, Jittorntam Paisan, Niparuck Pimjai, Sanguanwit Pitsucha, Wananukul Winai, Jindadamrongwech Sumalee
a Department of Pathology, Faculty of Medicine , Ramathibodi Hospital, Mahidol University , Bangkok , Thailand.
b Department of Emergency Medicine, Faculty of Medicine , Ramathibodi Hospital, Mahidol University , Bangkok , Thailand.
Hematology. 2017 Mar;22(2):114-118. doi: 10.1080/10245332.2016.1231989. Epub 2016 Sep 27.
To investigate the cause(s) of a Thai male proband presenting low oxygen saturation by pulse oximetry (SpO) and severe anemia.
As Hb variant was suspected, Hb typing was determined by high-performance liquid chromatography and capillary electrophoresis, and subsequently Hb variant was identified by DNA sequencing. Complete blood counts were performed using automated blood cell counter and oxygen saturation was measured by pulse oximetry.
Proband was compound heterozygous for Hb Louisville [β42(CD1)Phe→Leu] and Hb La Desirade [β129(H7)Ala→Val]. Of the proband's two sons, one was compound heterozygous for Hb Louisville and Hb E and the other for Hb La Desirade and Hb E. The former son had similar clinical features and laboratory findings with those of the proband while the latter showed had no abnormal clinical manifestations.
This the first report of compound heterozygosity of Hb Louisville and Hb La Desirade in an individual of Southeast Asian ethnicity. Hb variant identification is crucial for genetic counseling and appropriate treatment in regions where hemoglobinopathies are common.
