Subject(s)
Erythrocytes/enzymology , Hemoglobin SC Disease/enzymology , Nitric Oxide Synthase Type III/metabolism , Nitric Oxide/metabolism , Case-Control Studies , Enzyme Activation , Erythrocyte Deformability , Erythrocytes/pathology , Gene Expression Regulation , Hemoglobin SC Disease/genetics , Hemoglobin SC Disease/pathology , Humans , Nitric Oxide Synthase Type III/genetics , Signal Transduction , Spectrin/metabolismABSTRACT
A 14 year-old patient developed severe anemia and splenomegaly 2 days after the onset of a febrile upper airway infection. The hemoglobin concentration had dropped to 1.1 g/dl. Death occurred as consequence of the acute anemia and peripheral circulatory failure. The crisis was caused by an acute splenic sequestration. Hemoglobin SC disease could be identified as the underlying disorder. Hemoglobin SC disease usually has a milder course than sickle cell disease. However the patients may develop the same crisis-like symptoms. Splenic sequestration is caused by the occlusion of the splenic sinuses due to sickled and aggregated erythrocytes with subsequent trapping of large blood volumes and circulatory failure. Regular transfusions and/or splenectomy are recommended to prevent splenic sequestration crisis.
Subject(s)
Anemia, Sickle Cell/pathology , Hemoglobin SC Disease/pathology , Spleen/pathology , Adolescent , Anemia, Sickle Cell/enzymology , Anemia, Sickle Cell/genetics , Bone Marrow/pathology , Erythrocyte Deformability/physiology , Erythrocytes/pathology , Glucosephosphate Dehydrogenase Deficiency/enzymology , Glucosephosphate Dehydrogenase Deficiency/genetics , Glucosephosphate Dehydrogenase Deficiency/pathology , Hemoglobin SC Disease/enzymology , Hemoglobin SC Disease/genetics , Hemoglobinometry , Humans , Male , Microscopy, Electron , ResuscitationABSTRACT
The glucose-6-phosphate dehydrogenase (G-6-PD) gene is located on the X-chromosome. Normal males have a single gene and produce a single G-6-PD type, while normal XX females may be heterozygotes for two different G-6-PD genes. We report the case of a phenotypic male who was found to be heterozygous for two G-6-PD enzymes. Cytogenetic analysis showed that he was a 46,XX male.
