Beta-thalassemia history and symptoms: Difference between revisions
Line 30: | Line 30: | ||
Patients with beta-thalassemia major and intermedia may experience signs and symptoms of gallbladder illness as a result of gallstone production if they have long-lasting hemolysis. | Patients with beta-thalassemia major and intermedia may experience signs and symptoms of gallbladder illness as a result of gallstone production if they have long-lasting hemolysis. | ||
Usually, beta-thalassemia minor is found by chance during a regular full blood count. Patients may have minimal anemic symptoms without obvious physical test results<ref name="pmid19678601">{{cite journal |vauthors=Muncie HL, Campbell J |title=Alpha and beta thalassemia |journal=Am Fam Physician |volume=80 |issue=4 |pages=339–44 |date=August 2009 |pmid=19678601 |doi= |url=}}</ref>ref name="pmid20492708">{{cite journal |vauthors=Galanello R, Origa R |title=Beta-thalassemia |journal=Orphanet J Rare Dis |volume=5 |issue= |pages=11 |date=May 2010 |pmid=20492708 |pmc=2893117 |doi=10.1186/1750-1172-5-11 |url=}}</ref>. | Usually, beta-thalassemia minor is found by chance during a regular full blood count. Patients may have minimal anemic symptoms without obvious physical test results<ref name="pmid19678601">{{cite journal |vauthors=Muncie HL, Campbell J |title=Alpha and beta thalassemia |journal=Am Fam Physician |volume=80 |issue=4 |pages=339–44 |date=August 2009 |pmid=19678601 |doi= |url=}}</ref><ref name="pmid20492708">{{cite journal |vauthors=Galanello R, Origa R |title=Beta-thalassemia |journal=Orphanet J Rare Dis |volume=5 |issue= |pages=11 |date=May 2010 |pmid=20492708 |pmc=2893117 |doi=10.1186/1750-1172-5-11 |url=}}</ref>. | ||
==References== | ==References== |
Revision as of 21:03, 16 August 2023
Beta-thalassemia Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Beta-thalassemia history and symptoms On the Web |
American Roentgen Ray Society Images of Beta-thalassemia history and symptoms |
Risk calculators and risk factors for Beta-thalassemia history and symptoms |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Maryam Hadipour, M.D.[2]
Overview
History and Symptoms
Patients with beta-thalassemia major appear between the ages of 6 and 24 months, when fetal (HbF) hemoglobin synthesis changes to adult (HbA) hemoglobin production (HbA)[1].
Major variant patients present in early infancy with:
- Severe anemia
- Failure to thrive
- Pallor
- Jaundice
- Abdominal enlargement
- Fatigue
- Recurrent fever attacks
- Growth retardation
- Poor muscle tone
After treatment initiation, they would have symptoms of iron overload due to multiple transfusions which may cause:
- Fatigue and weakness
- Arthritis
- Abdominal pain
- Bronzed or grayish skin
- Loss of libido
- Hormonal imbalances
- Cognitive problems
Although by definition, beta-thalassemia intermedia is not severe enough to necessitate routine transfusions, it does contain a wide spectrum of clinical manifestations. Intermedia variant patients might experience moderate anemia, splenomegaly, bone changes, and intermittent need for blood transfusions at different ages[2][3][4] Patients with beta-thalassemia major and intermedia may experience signs and symptoms of gallbladder illness as a result of gallstone production if they have long-lasting hemolysis.
Usually, beta-thalassemia minor is found by chance during a regular full blood count. Patients may have minimal anemic symptoms without obvious physical test results[5][6].
References
- ↑ Cao A, Galanello R (February 2010). "Beta-thalassemia". Genet Med. 12 (2): 61–76. doi:10.1097/GIM.0b013e3181cd68ed. PMID 20098328.
- ↑ 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.
- ↑ Muncie HL, Campbell J (August 2009). "Alpha and beta thalassemia". Am Fam Physician. 80 (4): 339–44. PMID 19678601.
- ↑ Galanello R, Origa R (May 2010). "Beta-thalassemia". Orphanet J Rare Dis. 5: 11. doi:10.1186/1750-1172-5-11. PMC 2893117. PMID 20492708.