hereditary Xerocytosis

An autosomal dominant hemolytic anemia characterized by primary ERYTHROCYTE DEHYDRATION. Patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and decreased osmotic fragility. Hydrops fetalis and pseudohyperkalemia of erythrocytes may also be present, along with complications such as SPLENOMEGALY and CHOLELITHIASIS. Mutations in the PIEZO1 gene have been identified. OMIM: 194380

Also Known As:

Xerocytosis, hereditary; Dehydrated hereditary stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis; Desiccytosis, hereditary; Hereditary Xerocytosis

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Anemia: 38331
    - Hemolytic Anemia: 6695
      - Congenital Hemolytic Anemia: 288
        hereditary Xerocytosis: 59
  - Hemoglobinopathies: 2001
    - Thalassemia: 6112
      - alpha-Thalassemia: 1146
        Hydrops Fetalis: 798
        hereditary Xerocytosis: 59
  - Fetal Erythroblastosis: 297
    - Hydrops Fetalis: 798
      - hereditary Xerocytosis: 59
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hemoglobinopathies: 2001
    - Thalassemia: 6112
      - alpha-Thalassemia: 1146
        Hydrops Fetalis: 798
        hereditary Xerocytosis: 59
  - Congenital Hemolytic Anemia: 288
    - hereditary Xerocytosis: 59
- Fetal Diseases: 814
  - Fetal Erythroblastosis: 297
    - Hydrops Fetalis: 798
      - hereditary Xerocytosis: 59
Urogenital Diseases: 126
- Female Urogenital Diseases and Pregnancy Complications
  - Pregnancy Complications: 2961
    - Fetal Diseases: 814
      - Fetal Erythroblastosis: 297
        Hydrops Fetalis: 798
        hereditary Xerocytosis: 59
Immune System Diseases: 4321
- Fetal Erythroblastosis: 297
  - Hydrops Fetalis: 798
    - hereditary Xerocytosis: 59
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Edema: 35730
    - Hydrops Fetalis: 798
      - hereditary Xerocytosis: 59

P L Ogburn Selected Research

P L Ogburn Research Topics

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