TY - JOUR
T1 - Severe hemolysis and red cell fragmentation caused by the combination of a spectrin mutation with a thrombotic microangiopathy
AU - Jarolim, Petr
AU - Palek, Jiri
AU - Coetzer, Theresa L.
AU - Lawler, Jack
AU - Velez‐Garcia, Enrique
AU - Fradera, Jean
AU - Charles, Agnes
AU - Jacob, Harry S.
AU - Moake, Joel L.
PY - 1989/9
Y1 - 1989/9
N2 - Two patients are described who presented with severe hemolysis and erythrocyte fragmentation. One patient had renal allograft rejection and disseminated intravascular coagulation, and the other had thrombotic thrombocytopenia purpura. The severity of hemolysis and the red cell abnormalities were considerably more profound than usually seen in patients with thrombotic microangiopathies. After evaluation of blood smears prepared before the onset of the disease and biochemical characterization of proteins of the red blood cell skeleton, a mutation of the skeletal protein spectrin, designated Sp α1/65, was identified. In the heterozygous form, this mutation manifests as mild, often asymptomatic, hereditary elliptocytosis. We conclude that in these two patients with thrombotic microangiopathy, the intrinsic red cell membrane instability resulting from the underlying skeletal defect aggravated the mechanical red cell fragmentation, producing morphological features similar to the severe hemolytic form of hereditary elliptocytosis or hereditary pyropoikilocytosis.
AB - Two patients are described who presented with severe hemolysis and erythrocyte fragmentation. One patient had renal allograft rejection and disseminated intravascular coagulation, and the other had thrombotic thrombocytopenia purpura. The severity of hemolysis and the red cell abnormalities were considerably more profound than usually seen in patients with thrombotic microangiopathies. After evaluation of blood smears prepared before the onset of the disease and biochemical characterization of proteins of the red blood cell skeleton, a mutation of the skeletal protein spectrin, designated Sp α1/65, was identified. In the heterozygous form, this mutation manifests as mild, often asymptomatic, hereditary elliptocytosis. We conclude that in these two patients with thrombotic microangiopathy, the intrinsic red cell membrane instability resulting from the underlying skeletal defect aggravated the mechanical red cell fragmentation, producing morphological features similar to the severe hemolytic form of hereditary elliptocytosis or hereditary pyropoikilocytosis.
KW - hereditary elliptocytosis
KW - hereditary pyropoikilocytosis
KW - renal allograft rejection
KW - spectrin α
KW - thrombotic thrombocytopenia purpura
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U2 - 10.1002/ajh.2830320110
DO - 10.1002/ajh.2830320110
M3 - Article
C2 - 2667341
AN - SCOPUS:0024342132
SN - 0361-8609
VL - 32
SP - 50
EP - 56
JO - American Journal of Hematology
JF - American Journal of Hematology
IS - 1
ER -