The Physiotherapy Management of Thalassaemia and Sickle Cell Anaemia: Difference between revisions

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== Thalassaemia ==
== Thalassaemia ==
Thalassaemia is one of the most common inherited diseases worldwide. It is defined as an autosomal recessive blood disorder that results from reduction or absence in the production of globin chains that make up the haemoglobin (Hb) leading to abnormal destruction of erythrocytes and consequently decreased oxygen delivery<ref>Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harbor perspectives in medicine. 2013 Feb 1;3(2):a011775.</ref>.   
Thalassaemia is one of the most common inherited diseases worldwide. It is defined as an autosomal recessive blood disorder that results from reduction or absence in the production of globin chains that make up the haemoglobin (Hb) leading to abnormal destruction of erythrocytes and consequently decreased oxygen delivery<ref>Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harbor perspectives in medicine. 2013 Feb 1;3(2):a011775.</ref>. As a result, patients have a range of symptoms and complications that impose a large burden on individuals and the healthcare systems<ref>Lai K, Huang G, Su L, He Y. The prevalence of thalassemia in mainland China: evidence from epidemiological surveys. Scientific reports. 2017 Apr 19;7(1):1-1.</ref>.   


Thalassaemia is derived from the Greek word "Thalassa" which means <nowiki>''sea''. It's also referred to as ''Mediterranean Anaemia''</nowiki>. It mainly affects individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia<ref name=":0">Kora A. The Physiotherapy Management of Thalassaemia and Sickle Cell Anaemia. Physioplus Course 2020</ref>.  
Thalassaemia is derived from the Greek word "Thalassa" which means <nowiki>''sea''. It's also referred to as ''Mediterranean Anaemia''</nowiki>. It mainly affects individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia<ref name=":0">Kora A. The Physiotherapy Management of Thalassaemia and Sickle Cell Anaemia. Physioplus Course 2020</ref>.  
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* Thalassemia major: this is a severe form of anaemia where patients need continuous blood transfusions throughout their lives.
* Thalassemia major: this is a severe form of anaemia where patients need continuous blood transfusions throughout their lives.
* Thalassemia intermedia:  mild to moderate anaemia, patients occasionally need blood transfusions
* Thalassemia intermedia:  mild to moderate anaemia, patients occasionally need blood transfusions
* Thalassemia minor or trait: patients have mild symptoms and they usually don’t need blood transfusions
* Thalassemia minor or trait: patients have mild symptoms and they usually don’t need blood transfusions.


'''The Alpha haemoglobin chain is formed of four genes, Alpha Thalassaemia is classified according to the number of mutated genes<ref name=":0" />:'''
'''The Alpha haemoglobin chain is formed of four genes, Alpha Thalassaemia is classified according to the number of mutated genes<ref name=":0" />:'''
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Cooley's Anaemia or Beta Thalassaemia Major develops when two genes are mutated leading to moderate to severe manifestation  
Cooley's Anaemia or Beta Thalassaemia Major develops when two genes are mutated leading to moderate to severe manifestation  
=== '''Symptoms:''' ===
The severity of symptoms depends on the type and number of mutated genes. Thalassaemia has different symptoms:
* Pain
* Fatigue
* Brittle bones
* Poor appetite
* Liability to infection
* Dark urine
* Generalized body weakness 


== Sickle Cell Anaemia  ==
== Sickle Cell Anaemia  ==

Revision as of 17:01, 30 September 2020

Original Editors - Mariam Hashem

Top Contributors - Mariam Hashem, Tarina van der Stockt, Kim Jackson, Lucinda hampton, Jess Bell, Aminat Abolade and Stacy Schiurring 

Thalassaemia[edit | edit source]

Thalassaemia is one of the most common inherited diseases worldwide. It is defined as an autosomal recessive blood disorder that results from reduction or absence in the production of globin chains that make up the haemoglobin (Hb) leading to abnormal destruction of erythrocytes and consequently decreased oxygen delivery[1]. As a result, patients have a range of symptoms and complications that impose a large burden on individuals and the healthcare systems[2].

Thalassaemia is derived from the Greek word "Thalassa" which means ''sea''. It's also referred to as ''Mediterranean Anaemia''. It mainly affects individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia[3].

There are two types of Thalassaemia: α- and β- and complex thalassemias depending on the type of the involved globin chain. Alpha Thalassaemia is developed when the alpha gene is affected and likewise, in beta-thalassemia, the globin chain is affected or the abnormal haemoglobin involved is beta-globin gen[4].

The incidence rate is about 4.4 of every 10000 live births globally and approximately about 5% of all population[3].

It has been estimated that the globally there are 9million carriers of Thalassaemia and Sickle cell anaemia become pregnant each year[5].

[6]

Clinically, Thalassemia is classified into three forms[4]:

  • Thalassemia major: this is a severe form of anaemia where patients need continuous blood transfusions throughout their lives.
  • Thalassemia intermedia: mild to moderate anaemia, patients occasionally need blood transfusions
  • Thalassemia minor or trait: patients have mild symptoms and they usually don’t need blood transfusions.

The Alpha haemoglobin chain is formed of four genes, Alpha Thalassaemia is classified according to the number of mutated genes[3]:

A person is a carrier when one gene is mutated

Alpha Thalassaemia Trait: when two genes are mutated leading to mild manifestations

Alpha Thalassaemia Major: when three genes are mutated leading to moderate to sever symptoms

Rarely,  four genes might be mutated leading to an early death.

Beta haemoglobin chain is formed of two genes[3]:

Beta Thalassaemia Minor develops when one gene is mutated. Patients experience mild symptoms

Cooley's Anaemia or Beta Thalassaemia Major develops when two genes are mutated leading to moderate to severe manifestation

Symptoms:[edit | edit source]

The severity of symptoms depends on the type and number of mutated genes. Thalassaemia has different symptoms:

  • Pain
  • Fatigue
  • Brittle bones
  • Poor appetite
  • Liability to infection
  • Dark urine
  • Generalized body weakness

Sickle Cell Anaemia[edit | edit source]

References[edit | edit source]

  1. ↑ Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harbor perspectives in medicine. 2013 Feb 1;3(2):a011775.
  2. ↑ Lai K, Huang G, Su L, He Y. The prevalence of thalassemia in mainland China: evidence from epidemiological surveys. Scientific reports. 2017 Apr 19;7(1):1-1.
  3. ↑ 3.0 3.1 3.2 3.3 Kora A. The Physiotherapy Management of Thalassaemia and Sickle Cell Anaemia. Physioplus Course 2020
  4. ↑ 4.0 4.1 Aszhari FR, Rustam Z, Subroto F, Semendawai AS. Classification of thalassemia data using random forest algorithm. InJournal of Physics: Conference Series 2020 Mar 1 (Vol. 1490, No. 1, p. 012050). IOP Publishing.
  5. ↑ Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bulletin of the World Health Organization. 2008;86:480-7.
  6. ↑ What is Thalassemia? . Available from:https://www.youtube.com/watch?v=JxuupecxHO8[last accessed 30/09/2020]
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