Hereditary spherocytosis physical examination
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Overview
The majority of affected individuals have mild or moderate hemolysis or hemolytic anemia and a known family history, making diagnosis and treatment relatively straightforward.[1]Individuals with significant severe hemolysis may develop additional complications such as jaundice/hyperbilirubinemia, folate deficiency, or splenomegaly.
Physical Examination
- The physical examination findings in hereditary spherocytosis include;[2]
- scleral icterus
- jaundice
- splenomegaly
- Palpable spleens have been detected in more than 75% of affected subjects. The liver is normal in size and function.
- Other important clues are jaundice and upper right abdominal pain indicative of gallbladder disease. This is especially important if the patient has a family history of gallbladder disease.
- Any patient who presents with profound and sudden anemia and reticulocytopenia with the aforementioned physical findings also should have HS in the differential diagnosis.[1]
References
- ↑ 1.0 1.1 Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ; et al. (2004). "Guidelines for the diagnosis and management of hereditary spherocytosis". Br J Haematol. 126 (4): 455–74. doi:10.1111/j.1365-2141.2004.05052.x. PMID 15287938.
- ↑ Perrotta, Silverio; Gallagher, Patrick G; Mohandas, Narla (2008). "Hereditary spherocytosis". The Lancet. 372 (9647): 1411–1426. doi:10.1016/S0140-6736(08)61588-3. ISSN 0140-6736.