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 is attributed to an autosomal recessive inherited genetic defect.
Signs associated with this pathology vary based on the number of chains affected, ranging from no symptoms to microcytic anaemia, jaundice, or even death.
Complications associated with this pathology include haemosiderosis from repeated transfusions, recurrent infections, and early death.
Prognosis is variable depending on the genes inherited and available supportive treatment.
Join Shiken For FREEJoin For FREE