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Article: HOMOZYGOSITY OF Hb G-COUSHATTA COMBINED WITH HETEROZYGOUS IVS-I-110(G[arrow right]A) IN AN ADULT PATIENT
- Article from:
- Genetic Counseling
- Article date:
- April 1, 2008
- Author:
CopyrightCopyright Ãditions Médecine et Hygiène 2008. Provided by ProQuest LLC. (Hide copyright information)
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The male proband of Turkish descendance was 35 years of age at the time of the examination. The clinical indication for hematological analysis was the request for HbA 1c quantification during diabetes follow-up associated with hyperlipidemia. Routine HbA 1c examination by cation exchange high performance liquid chromatography (HPLC) was performed with a VARIANT system (Biorad, Basel, Switzerland). The hematological data are summarized in Table I. In addition to hypochromia, microcytosis and erythrocytosis, an unexpected Hb variant was identified in the HPLC chromatogram. Quantification of both HbA2 and HbA1c was not possible due to the peak of the abnormal hemoglobin. The erythrocyte ...