Beta-thalassemia physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Maryam Hadipour, M.D.[2]
Overview
In physical examination of patients with beta-thalassemia major, pallor, jaundice, hepatosplenomegaly, frontal bossing, long bone abnormalities, skull expansion with frontal, malar, and nasal bridge prominences, maxillary hypertrophy, malocclusion of jaw, short trunk, genu valgum, delayed sexual development, low blood pressure and irregular pulse may be noticeable. Beta-thalassemia minor does not have significant signs and manifestations.
Physical Examination
Physical findings in beta-thalassemia major may include[1][2][3].:
- Pallor
- Hyperpigmentation due to transfusion
- Jaundice
- Hepatosplenomegaly
- Facial bone deformities
- Frontal bossing
- Long bone abnormalities
- Skull expansion with frontal, malar, and nasal bridge prominences
- Maxillary hypertrophy
- The upper maxillary expansion causes malocclusion by altering tooth spacing
- Short trunk and genu valgum
- Delayed sexual development
- Low blood pressure which may indicate cardiac decompensation
- Irregular pulse due to iron-related myocardial abnormalities
Beta-Thalassemia minor does not cause significant physical abnormalities.
References
- ↑ Motta I, Bou-Fakhredin R, Taher AT, Cappellini MD (July 2020). "Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation". Drugs. 80 (11): 1053–1063. doi:10.1007/s40265-020-01341-9. PMID 32557398 Check
|pmid=value (help). - ↑ Ali S, Mumtaz S, Shakir HA, Khan M, Tahir HM, Mumtaz S, Mughal TA, Hassan A, Kazmi S, Sadia, Irfan M, Khan MA (December 2021). "Current status of beta-thalassemia and its treatment strategies". Mol Genet Genomic Med. 9 (12): e1788. doi:10.1002/mgg3.1788. PMC 8683628 Check
|pmc=value (help). PMID 34738740 Check|pmid=value (help). Vancouver style error: initials (help) - ↑ Khandros E, Kwiatkowski JL (June 2019). "Beta Thalassemia: Monitoring and New Treatment Approaches". Hematol Oncol Clin North Am. 33 (3): 339–353. doi:10.1016/j.hoc.2019.01.003. PMID 31030806.