Beta-thalassemia physical examination: Difference between revisions
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==Overview== | ==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 | 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 Examination== | ||
Physical findings in beta-thalassemia major may include<ref name="pmid32557398">{{cite journal |vauthors=Motta I, Bou-Fakhredin R, Taher AT, Cappellini MD |title=Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation |journal=Drugs |volume=80 |issue=11 |pages=1053–1063 |date=July 2020 |pmid=32557398 |doi=10.1007/s40265-020-01341-9 |url=}}</ref><ref name="pmid34738740">{{cite journal |vauthors=Ali S, Mumtaz S, Shakir HA, Khan M, Tahir HM, Mumtaz S, Mughal TA, Hassan A, Kazmi SAR, Sadia, Irfan M, Khan MA |title=Current status of beta-thalassemia and its treatment strategies |journal=Mol Genet Genomic Med |volume=9 |issue=12 |pages=e1788 |date=December 2021 |pmid=34738740 |pmc=8683628 |doi=10.1002/mgg3.1788 |url=}}</ref><ref name="pmid31030806">{{cite journal |vauthors=Khandros E, Kwiatkowski JL |title=Beta Thalassemia: Monitoring and New Treatment Approaches |journal=Hematol Oncol Clin North Am |volume=33 |issue=3 |pages=339–353 |date=June 2019 |pmid=31030806 |doi=10.1016/j.hoc.2019.01.003 |url=}}</ref>.: | Physical findings in beta-thalassemia major may include<ref name="pmid32557398">{{cite journal |vauthors=Motta I, Bou-Fakhredin R, Taher AT, Cappellini MD |title=Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation |journal=Drugs |volume=80 |issue=11 |pages=1053–1063 |date=July 2020 |pmid=32557398 |doi=10.1007/s40265-020-01341-9 |url=}}</ref><ref name="pmid34738740">{{cite journal |vauthors=Ali S, Mumtaz S, Shakir HA, Khan M, Tahir HM, Mumtaz S, Mughal TA, Hassan A, Kazmi SAR, Sadia, Irfan M, Khan MA |title=Current status of beta-thalassemia and its treatment strategies |journal=Mol Genet Genomic Med |volume=9 |issue=12 |pages=e1788 |date=December 2021 |pmid=34738740 |pmc=8683628 |doi=10.1002/mgg3.1788 |url=}}</ref><ref name="pmid31030806">{{cite journal |vauthors=Khandros E, Kwiatkowski JL |title=Beta Thalassemia: Monitoring and New Treatment Approaches |journal=Hematol Oncol Clin North Am |volume=33 |issue=3 |pages=339–353 |date=June 2019 |pmid=31030806 |doi=10.1016/j.hoc.2019.01.003 |url=}}</ref>.: | ||
*Pallor | *[[Pallor]] | ||
*Hyperpigmentation due to transfusion | *[[Hyperpigmentation]] due to transfusion | ||
*Jaundice | *[[Jaundice]] | ||
*Hepatosplenomegaly | *[[Hepatosplenomegaly]] | ||
*Facial bone deformities | *Facial bone deformities | ||
*Frontal bossing | *Frontal bossing | ||
| Line 19: | Line 19: | ||
*Maxillary hypertrophy | *Maxillary hypertrophy | ||
*The upper maxillary expansion causes malocclusion by altering tooth spacing | *The upper maxillary expansion causes malocclusion by altering tooth spacing | ||
*Short trunk and genu valgum | *Short trunk and [[genu valgum]] | ||
*Delayed sexual development | *Delayed sexual development | ||
*Low blood pressure which may indicate cardiac decompensation | *Low blood pressure which may indicate cardiac decompensation | ||
*Irregular pulse due to iron-related myocardial abnormalities | *Irregular pulse due to iron-related myocardial abnormalities | ||
Latest revision as of 05:55, 25 August 2023
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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.