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Hereditary stomatocytosis describes a number of inherited, mostly autosomal dominant human conditions which affect the red blood cell and create the appearance of a slit-like area of central pallor (stomatocyte) among erythrocytes on peripheral blood smear.
A few indications and symptoms include anemia, sporadic episodes of excruciating pain, hand and foot edema, recurrent infections, delayed puberty or growth, and visual issues. [19] The goal of sickle cell anemia treatment is usually to avoid pain episodes, relieve symptoms, and prevent complications.
Initial symptoms of drug-induced autoimmune hemolytic anemia are typically vague and reflect mild, moderate, or severe anemia. Symptoms of DIIHA can manifest within hours to months of the initial drug exposure. [1] DIIHA ranges in severity from severe intravascular hemolysis to milder presentations of extravascular hemolysis. [7]
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, the effect is usually short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD ...
Symptoms of AIHA may be due to the underlying anemia; including shortness of breath or dyspnea, fatigue, headache, muscle weakness and pallor. [10] In cold agglutinin disease (cold antibody type), agglutination and impaired passage of red blood cells through capillaries in the extremities causes acrocyanosis and Raynaud phenomenon with a rare complication of gangrene [4]
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes.
Plummer–Vinson syndrome (also known as Paterson–Kelly syndrome [1] or Paterson–Brown-Kelly syndrome in the UK [2]) is a rare disease characterized by dysphagia (difficulty swallowing), iron-deficiency anemia, glossitis (inflammation of the tongue), cheilosis (cracking at the corners of the mouth), and esophageal webs (thin membranes in the esophagus that can cause obstruction). [1]
Lesions lips, patient with hemorrhagic hereditary telangiectasia. Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
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