Hereditary Elliptocytosis

Segel, George B.

doi:10.1016/b978-1-4377-0755-7.00453-x

Cited by 1 publication

(4 citation statements)

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“…Elliptocytes are normochromic and normocytic and range from few to 100% of the erythrocytes [1]. Spherocytes, ovalocytes, stomatocytes, microcytes and fragmented cells may also be observed [1,7]. The elliptical erythrocyte form is acquired in the circulation and that is why the reticulocytes and bone marrow red blood precursors are normal in shape [2].…”

Section: Introductionmentioning

confidence: 99%

“…In severe cases, occasional erythrocyte transfusions may be required. Daily folate is recommended for patients with significant chronic hemolysis [1,7]. Phototherapy and exchange transfusion are warranted in cases of severe anemia and hyperbilirubinemia.…”

Section: Introductionmentioning

confidence: 99%

“…A review of the family history and the analysis of the red blood cell morphology can usually confirm the diagnosis [1,7]. Sometimes additional tests may be required including the analysis of cDNA and genomic DNA and the study of membrane proteins by gel electrophoresis and spectrindimer self-association assays [1].…”

Section: Introductionmentioning

confidence: 99%

“…The hallmark of HE is the presence of cigar-shaped elliptocytes on the peripheral blood smear [1, 2,7]. Elliptocytes are normochromic and normocytic and range from few to 100% of the erythrocytes [1].…”

Section: Introductionmentioning

confidence: 99%

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Transient pure red blood cell aplasia as clinical presentation of congenital hemolytic anemia: a case report

Figueiredo¹

2009

Cases J

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Hereditary elliptocytosis is a congenital hemolytic anemia characterized by the presence of oval shaped erythrocytes in the peripheral blood. In rare cases, transient pure red blood cell aplasia can be the initial clinical presentation.We report a case of a 27-month-old boy admitted with fever without focus, severe poikilocytic anemia, no evidence of hemolysis, a normocelular bone marrow and negative serological tests for viral infections. One month before admission, he had been treated with phenytoin and valproate after a seizure episode without fever.Analysis of red cell membrane proteins showed a 16% decrease in spectrin levels, also detected in his father and brother, confirming the diagnosis of elliptocytosis.Only his father carried the a LELY mutation, in trans to the a-spectrin mutation.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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