Clinical features: Alpha-thalassaemia is an inherited disorder of the blood, caused by reduced production of part of the haemoglobin molecule. Haemoglobin is the oxygen carrying protein found in red blood cells. It is made up of four subunits, two alpha and two beta subunits. Alpha-thalassaemia is due to reduced or absent production of the haemoglobin alpha subunits and the severity of the condition reflects this, ranging from profound anaemia leading to intrauterine or early neonatal death, to a chronic haemolytic anaemia.
Incidence: Common in people from the Far East, Middle East and Africa. The commonest prevalence of 14% is reported in Northern Thailand.
Inheritance : Autosomal recessive.
Gene: Alpha-globin gene cluster on chromosome 16. Most affected individuals have gene deletions.
Prenatal diagnosis: : Yes. Please refer to your local clinical genetics service prior to a pregnancy. This ensures family members are offered appropriate advice and investigations, to confirm whether or not prenatal diagnosis is possible.
Carrier Testing:Yes.
Thalassaemia Society UK 19 The Broadway Southgate Circus London N14 6PH Tel: 020 8882 0011 Fax: 020 8882 8618 Web: www.ukts.org
If you would like to access specialist information on alpha-thalassaemia please go to:- Genetests - Alpha-thalassaemia
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