How is hereditary Stomatocytosis diagnosed?
The combination of macrocytosis and a low MCHC is virtually diagnostic of hereditary stomatocytosis, especially when stomatocytes are present on the peripheral blood smear and the osmotic fragility test is positive.
What is a hereditary Xerocytosis?
Hereditary xerocytosis (HX) is a rare, autosomal dominant congenital hemolytic anemia (CHA) characterized by erythrocyte dehydration with presentation of various degrees of hemolytic anemia. HX is often misdiagnosed as hereditary spherocytosis or other CHA.
Can dehydration be hereditary?
Most reported DHS cases are caused by gain-of-function mutations in the gene PIEZO1 (16q24. 3) which encodes part of a mechanosensitive ion channel. This results in increased red cell membrane permeability for cations that consequently leads to cation depletion, dehydration and shortened red cell survival.
What causes hereditary Stomatocytosis?
Hereditary stomatocytosis describes a number of inherited autosomal dominant human conditions which affect the red blood cell, in which the membrane or outer coating of the cell ‘leaks’ sodium and potassium ions….
| Hereditary stomatocytosis | |
|---|---|
| Stomatocytes | |
| Specialty | Hematology |
What are the symptoms of hereditary Stomatocytosis?
Despite the highly variable clinical presentation of HSt, almost all the forms present hemolysis and anemia, which can vary from mild to severe. Similarly to all hemolytic conditions, the key signs and symptoms are jaundice, pallor, fatigue, splenomegaly, and gallstones.
Which of the following is characteristic of hereditary Xerocytosis?
Hereditary spherocytosis (HS) is an inherited disease that affects the red blood cells. Characteristic symptoms of HS are the destruction of red blood cells in the spleen and their removal from the blood stream (hemolytic anemia), a yellow tone to the skin (jaundice), and an enlarged spleen (splenomegaly).
What does the presence of Stomatocytes mean?
Sometimes they are mere artifacts associated with specimen collection and storage. A significantly high number of stomatocytes can be found in alcoholism, liver and gallbladder disease, cancer and heart disease. A high number of stomatocytes are also seen in congenital stomatocytosis and other rare hereditary diseases.
How is stomatocytosis treated?
Treatment involves blood transfusions, when necessary, together with management of biliary lithiasis and iron overload. Splenectomy is contraindicated in OHSt patients as it may induce venous thromboembolic complications. With correct management of the complications, the prognosis is good.
Are schistocytes present in thalassemia?
Schistocytes. Several fragmented RBCs per field, particularly with thrombocytopenia; suggest macroangiopathic hemolytic anemia. In the presence of hypochromic microcytic Heinz body–positive anemia, schistocytes suggest α-thalassemia variant (e.g., Hb H disease).
What do Acanthocytes indicate?
Blood cells have a layer called a membrane which has fats and proteins. Acanthocytes have an abnormal amount of these fats, or lipids, in odd proportions. That means the inner and outer surface areas of the blood cells are imbalanced. This causes them to harden, pucker, and form spikes.
What is the pathophysiology of hereditary xerocytosis?
Hereditary xerocytosis (HX) is a rare, autosomal dominant congenital hemolytic anemia characterized by macrocytic stomatocytosis, and decreased red cell osmotic fragility due to a defect in cation permeability.
Which mutations are associated with hereditary xerocytosis (zygomycosis)?
A mutation in the Gardos channel is associated with hereditary xerocytosis. Blood. 2015;126(11):1273–1280. doi:10.1182/blood-2015-04-642496 [ PubMed] [ CrossRef] [ Google Scholar]
Which mutations in the Gardos channel are associated with xerocytosis?
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. Blood. 2015;126(11):1281–1284. doi:10.1182/blood-2015-07-657957 [ PMC free article] [ PubMed] [ CrossRef] [ Google Scholar]
Is dehydrated hereditary stomatocytosis a congenital hemolytic disorder?
This article has been cited by other articles in PMC. Dehydrated hereditary stomatocytosis (DHSt) is a nonimmune congenital hemolytic disorder characterized by red blood cell (RBC) dehydration and lysis.