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Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome.
Due to underlying diseases that destroy the spleen (autosplenectomy), e.g. sickle-cell disease. Celiac disease: unknown physiopathology. [6] In a 1970 study, [7] it was the second most common cause of abnormalities of red blood cells linked to hyposplenism, after surgical splenectomy.
Splenic infarction can also result from a sickle cell crisis in patients with sickle cell anemia. Both splenomegaly and a tendency towards clot formation feature in this condition. In sickle cell disease, repeated splenic infarctions lead to a non-functional spleen (autosplenectomy).
Sickle cell disease, in which a mutation in the globin gene causes the formation of sickle hemoglobin. [2] This disease is marked by the manifestation of chronic compensated hemolytic anemia , with laboratory findings not limited to unconjugated hyperbilirubinemia but also elevated serum lactate dehydrogenase and low serum haptoglobin .
Such disorders include cystic fibrosis, [27] sickle cell disease, [28] phenylketonuria [29] and thalassaemia. [ 30 ] Hereditary defects in enzymes are generally inherited in an autosomal fashion because there are more non-X chromosomes than X-chromosomes, and a recessive fashion because the enzymes from the unaffected genes are generally ...
Peripheral blood smear in patient with thrombotic thrombocytopenic purpura. Typical schistocytes are annotated. A schistocyte or schizocyte (from Greek schistos for "divided" and kytos for "hollow" or "cell") is a fragmented part of a red blood cell.