History and exam
Key diagnostic factors
common
presence of risk factors
Key risk factors include positive family history and ethnicity from geographic malarial area.
symptoms of anaemia
Fatigue, dizziness, and shortness of breath are useful in determining the severity of the underlying disease if anaemia is present.
Other diagnostic factors
common
childhood or young adulthood
Because alpha-thalassaemia can have such wide variability in clinical manifestations, patients may present anywhere from in utero, with hydrops fetalis, to any point during adulthood, with an asymptomatic microcytosis. However, those with more severe manifestations will generally present in childhood or young adulthood.
family history of alpha-thalassaemia
Known family history of alpha-thalassaemia will facilitate making the diagnosis.
symptoms of gallstones
Symptoms of bloating, abdominal pain, and wind are suggestive of gallstones, which are fairly common in Hb H disease.
uncommon
history of prior iron supplementation
Iron supplementation may have been given unnecessarily in the past for a microcytic anaemia.
jaundice
mild dysmorphic facial features
Risk factors
strong
ethnicity from a geographic malarial area
Alpha-thalassaemia is most commonly an inherited disorder, and the epidemiology of the disease corresponds to geographic malarial areas (sub-Saharan Africa, the Mediterranean basin, the Middle East, South Asia, and Southeast Asia).[19][20][21]
Alpha(0) variants likely to lead to haemoglobin H (Hb H) disease or alpha-thalassaemia major are most commonly seen in Southeast Asia and also in the Mediterranean.[11]
positive family history
Family history is also important in determining likelihood of disease.
However, the apparent lack of family history does not preclude the presence of alpha-thalassaemia in a newborn. Parents with a mild or even silent clinical phenotype may give rise to offspring with a more severe phenotype (i.e., if both parents are heterozygous for the (--SEA) deletion they have a 25% chance of conceiving a child who has the almost universally fatal homozygous (-- SEA/--SEA) genotype).
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