Hereditary Spherocytosis (HS)

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MedlinePlus Genetics: ⁴² Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.

MalaCards based summary: Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to bilirubin metabolic disorder and thalassemia, and has symptoms including icterus An important gene associated with Hereditary Spherocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are Interaction between L1 and Ankyrins and Miscellaneous transport and binding events. The drugs Papaya and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include spleen, skin and heart, and related phenotypes are increased red cell osmotic fragility and muscle weakness

GARD: ¹⁹ Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and/or enlargement of the spleen. Other symptoms of hemolytic anemia may include feeling that your heart is pounding or racing (palpitations), feeling dizzy, problems concentrating, and headaches. Some people with a severe form of Hereditary spherocytosis may have short stature, delayed puberty, and skeletal abnormalities. The condition is caused by genetic changes in any of several genes, such as the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant manner, but may be inherited in an autosomal recessive manner. There are different types of Hereditary spherocytosis, which are distinguished by severity and genetic cause.

Orphanet: ⁵⁸ Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

Disease Ontology: ¹¹ A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.

Wikipedia: ⁷⁵ Hereditary spherocytosis (HS) is a congenital hemolytic disorder, wherein a genetic mutation coding for... more...

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