Alpha Thalassaemia

Pathology

Pathology is characterized by impaired production of α-chains resulting in an excess of β-chains. HBA1 and HBA2 genes are involved in this type of pathology.

Aetiology

Aetiology is attributed to an autosomal recessive inherited genetic defect.

Symptoms

• One Mutation: Silent Carrier - Asymptomatic
• Two Mutations: α Thalassaemia Trait - Asymptomatic or mild anaemia
• Three Mutations: Microcytic anaemia, jaundice, hepatosplenomegaly
• Four Mutations: Hydrops fetalis, fetus unable to survive leading to still birth

Signs

Signs associated with this pathology vary based on the number of chains affected, ranging from no symptoms to microcytic anaemia, jaundice, or even death.

Investigations

• Bloods: FBC,blood film, haemoglobin electrophoresis
• Other: Genetic studies

Treatment

• Medical: Folic acid, red cell transfusion, desferrioxamine (Iron chelation)
• Surgical: Splenectomy, bone marrow transplant

Complications

Complications associated with this pathology include haemosiderosis from repeated transfusions, recurrent infections, and early death.

Prognosis

Prognosis is variable depending on the genes inherited and available supportive treatment.