Beta-thalassemia history and symptoms: Difference between revisions
| (3 intermediate revisions by the same user not shown) | |||
| Line 5: | Line 5: | ||
==Overview== | ==Overview== | ||
Patients with beta-thalassemia major may manifest with | 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== | ==History and Symptoms== | ||
| Line 14: | Line 14: | ||
*Severe anemia | *Severe anemia | ||
*Failure to thrive | *Failure to thrive | ||
*Pallor | *[[Pallor]] | ||
*Jaundice | *[[Jaundice]] | ||
*Abdominal enlargement | *Abdominal enlargement | ||
*Fatigue | *Fatigue | ||
| Line 23: | Line 23: | ||
After treatment initiation, they would have symptoms of iron overload due to multiple transfusions which may cause: | After treatment initiation, they would have symptoms of iron overload due to multiple transfusions which may cause: | ||
*Fatigue and weakness | *Fatigue and weakness | ||
*Arthritis | *[[Arthritis]] | ||
*Abdominal pain | *Abdominal pain | ||
*Bronzed or grayish skin | *Bronzed or grayish skin | ||
*Loss of libido | *Loss of [[libido]] | ||
*Hormonal imbalances | *Hormonal imbalances | ||
*Cognitive problems | *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<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> | 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<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>. | ||
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<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<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>. | ||
Latest revision as of 05:54, 25 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
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.