Alpha-thalassaemia is considered an autosomal recessive disorder, but inheritance is complex because the alpha globin chain production is controlled by two genes: HBA1 and HBA2. There are two clinically significant forms of alpha-thalassaemia: the more severe type is known as haemoglobin Bart’s hydrops fetalis (Hb Bart’s), or alpha-thalassaemia major; the milder form is called haemoglobin H disease (HbH).
Beta-thalassaemia is an autosomal recessive condition and is caused by a variant of the beta globin gene.
Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in cystathionine β-synthase (CBS) that results in a defect in the catabolic pathway of the amino acid methionine.
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that result in impaired hormone production from the adrenal glands.
Congenital hypothyroidism (CH) occurs because of defects in the pituitary or thyroid gland, or thyroid hormones, resulting in an absent or underdeveloped thyroid gland (dysgenesis), or a thyroid that cannot make thyroid hormone (dyshormonogenesis).
Cystic fibrosis (CF) is an autosomal recessive inherited, multisystem condition that is most commonly associated with early death due to progressive lung disease.
Duchenne muscular dystrophy (DMD) is a disorder characterised by progressive symmetric muscle weakness commencing in the thighs and pelvis, then extending to other muscles of the body.
Familial adenomatous polyposis (FAP) is an autosomal dominant condition, resulting in an extremely high risk of colorectal cancer, together with other characteristic manifestations.
Familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by high levels of serum LDL-cholesterol. If untreated, FH can result in premature coronary artery disease.
Familial medullary thyroid cancer (FMTC) is an inherited condition and a subtype of MEN2 (multiple endocrine neoplasia type 2), a hereditary endocrine cancer syndrome. Individuals with FMTC have a high probability of developing medullary thyroid cancer (MTC) with a lower probability (<5%) of developing the other specific endocrine tumours (phaeochromocytoma or parathyroid hyperplasia) usually associated with MEN2.
Phaeochromocytomas and paragangliomas are uncommon tumours that affect between one and eight people per million each year. Approximately one in three patients presenting with phaeochromocytomas and/or paragangliomas have a gene mutation associated with familial paraganglioma syndromes.