Beta-thalassemia history and symptoms
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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
Patients with beta-thalassemia major may manifest with severe anemia, failure to thrive, pallor, jaundice, abdominal enlargement, fatigue, recurrent fever attacks, growth retardation and poor muscle tone early in childhood. Multiple transfusions can cause arthritis, abdominal pain, bronzed or grayish skin, loss of libido, hormonal imbalances, and cognitive problems. Intermedia variant patients might experience moderate anemia, splenomegaly, bone changes, and intermittent need for blood transfusions at different ages. Patients with beta-thalassemia minor are basically asymptomatic or have minor anemic symptoms.
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[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.