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Hemolytic Anemia Associated with Red Cell Membrane Defects
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Hereditary stomatocytosis is a rare autosomal dominant disorder typified by circulating erythrocytes that have a central slit or “mouth” on peripheral blood smear. The molecular defect is unknown. Erythrocytes in hereditary stomatocytosis are missing protein 4.9, also called stomatin, and manifest leakiness to sodium. Clinically, patients range from little or no hemolysis to severe anemia. Macrocytosis is typical. Patients with hereditary stomatocytosis must be distinguished from those patients with stomatocytes produced as an artifact of peripheral smear preparation and patients with stomatocytes due to alcohol or medications. Hereditary stomatocytosis patients respond well to splenectomy.
Rheology of the Hemolytic Anemias
Published in Gordon D. O. Lowe, Clinical Blood Rheology, 2019
Stomatocytosis also occurs as an acquired defect in patients with alcohol-induced cirrhosis and in obstructive jaundice.95 Erythrocyte membrane lipid abnormalities are commonly found in liver disease96 and increased erythrocyte membrane phosphatidyl choline has been reported in some patients with hereditary stomatocytosis97 although not in others.93 Thus, the ion transport defect of stomatocytic erythrocytes may be heterogeneous in origin.
Orbital involvement of Sitosterolemia
Published in Orbit, 2022
Linda O. Okafor, Jeremy Bowyer, Caroline Thaung, Elaine Murphy, David H. Verity
A 44-year-old man of South-Asian descent presented with a six-month history of painless fullness below the left eyebrow overlying the orbital rim, and without visual or orbital functional deficit (Figure 1a and 1b). There were no associated lacrimal or sinus symptoms. Prior to the present clinical presentation, he suffered excessive fatigue and was found to have anaemia and thrombocytopenia which prompted a haematological opinion. He was subsequently diagnosed with stomatocytosis, heamolytic anaemia and persistent thrombocytopenia with initial treatments including folic acid 5 mg daily, platelet infusions and intravenous immunoglobulin. He was also noted to have elevated total cholesterol level (variable but consistently >6 mmol/L). Further tests revealed high levels of phytosterols (Table 1). In the context of anaemia, thrombocytopenia and stomatocytosis, a diagnosis of Sitosterolemia was made and cholestyramine, cholestagel and ezetimibe commenced. However, the eyelid lesion developed despite a change of diet and good compliance with medical treatment.
Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis
Published in Pediatric Hematology and Oncology, 2020
Carmelo Fortugno, Eulalia Galea, Renato Cantaffa, Francesco Gigliotti, Rachele Lucia Fabiano, Valentina Talarico, Giuseppe Raiola, Maria Concetta Galati
In particular, Hereditary xerocytosis, also known as hereditary dehydrated stomatocytosis (DHS), although rare (prevalence 1/50000), is the most common red cell cation permeability disorder. Autosomal dominant missense mutations have been identified in the PIEZO1 gene, which encodes a large mechano-sensitive ion channel, primarily affecting its highly conserved carboxy (-COOH) terminal.1,2 Such mutations involve modest increase in the cation permeability of RBC membrane, which leads to the gradual loss of K+ and water with consequent dehydration, rigidity, alterations in the cell volume of the RBC and, finally, hemolysis.3–5 In addition, to the PIEZO1 mutations, some mutations in KCNN4 coding for the Gardos channel have also been identified in some cases of Hereditary xerocytosis.6 Hereditary xerocytosis is a hemolytic anemia occuring with different symptoms at all ages: in the newborn period anemia, jaundice, pseudohyperkaliemia, edema or ascite has been described; fetalis hydrops is rare.
Mild erythrocytosis as a presenting manifestation of PIEZO1 associated erythrocyte volume disorders
Published in Pediatric Hematology and Oncology, 2019
Tristan Knight, Ahmar Urooj Zaidi, Shengnan Wu, Manisha Gadgeel, Steven Buck, Yaddanapudi Ravindranath
The majority of patients with hereditary xerocytosis (HX)—also referred to as dehydrated stomatocytosis (DHS)—demonstrate stomatocytes and dense spherocyte-like cells on peripheral blood smear.4 The cellular dehydration can be detected by a leftward shift of the curve (Osmoscan) on osmotic gradient ektacytometry.4,5 On the other hand, cellular overhydration can also result in the presence of stomatocytes (overhydrated stomatocytes; OHS) but in this case osmoscans are right shifted with a higher deformability index.4PIEZO1 mutations have now been shown to cause HX/DHS; the mutations result in partial gain-of-function, such that the mechanoactivated ion channel inactivates more slowly and has prolonged latency.6–8 However, not all patients with HX have PIEZO1 mutations – nor, as we shall present, do all PIEZO1 mutations manifest as the HX phenotype. We evaluated three patients with novel PIEZO1 mutations, only one of whom displayed an HX phenotype, the others displaying a phenotype of hereditary spherocytosis (HS) of overhydrated stomatocytosis (OHS).