This protocol applies to patients with Haemoglobin H (HbH) disease of the deletional subtype: deletion of three α-globin genes with no non-deletional α-globin gene mutation present.
Deletional HbH disease is characterized by deletion of three α-globin genes with absence of any non-deletional (point mutation) variant. Correct subtype classification — deletional versus non-deletional — is clinically important because phenotype is largely determined by the underlying genetic change. Patients with the deletional form typically present with mild, often asymptomatic anaemia; in many cases the diagnosis is first suspected after an incidental laboratory finding.
In patients with this form of HbH disease, iron chelation therapy is part of the management strategy for those who meet specific criteria — the full protocol defines the precise conditions under which it is initiated and the point at which it is stopped.
The protocol aims to reduce liver iron concentration and serum ferritin to below defined target values. Once those targets are reached, therapy is stopped and ongoing monitoring is maintained.