期刊
BLOOD CELLS MOLECULES AND DISEASES
卷 69, 期 -, 页码 23-29出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bcmd.2017.04.003
关键词
Glucose-6-phosphate isomerase deficiency; Hemolytic anemia; Dysplastic erythropoiesis; Hepcidin to ferritin ratio; Soluble transferrin receptor; Iron loading
类别
资金
- Czech Science Foundation [GA15-13732S]
- Internal Grant Agency of Palacky University [LF_2017_015]
- Ministry of Education, Youth and Sports, Czech Republic [LO1304]
Glucose-6-phosphate isomerase (GPI) deficiency, a genetic disorder responsible for chronic nonspherocytic hemolytic anemia, is the second most common red blood cell glycolytic enzymopathy. We report three patients from two unrelated families of Czech and Slovak origin with macrocytic hemolytic anemia due to GPI deficiency. The first patient had 15% of residual GPI activity resulting from two new heterozygous missense mutations c.478T > C and c.1414C > T leading to substitutions p.(Ser160Pro) and p.(Arg472Cys). Two other patients (siblings) inherited the same c.1414C > T p.(Arg472Cys) mutation in a homozygous constitution and lost approximately 89% of their GPI activity. Erythroid hyperplasia with dysplastic features was observed in the bone marrow of all three patients. Low hepcidin/ferritin ratio and elevated soluble transferrin receptor detected in our GPI-deficient patients suggest disturbed balance between erythropoiesis and iron metabolism contributing to iron overload.
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