Non-Deletional HbH Disease (--/αTα): What to Do When Regular Transfusions Fail to Maintain Target Haemoglobin
This protocol addresses patients with the non-deletional form of haemoglobin H disease who are no longer adequately managed by a regular transfusion schedule.
Clinical scenario
Haemoglobin H disease, non-deletional form — defined by the presence of a non-deletional α-globin gene mutation (--/αTα). Clinical phenotypes vary considerably among affected individuals; symptoms are generally more severe than in deletional forms of the disease.
When the previous treatment no longer suffices
The preceding line of management — regular (scheduled) blood transfusions, typically administered every 3 to 6 weeks — is considered to have failed when pre-transfusion haemoglobin can no longer be maintained at the target of 80–90 g/L, or when access to or adherence with that regimen is severely limited. This protocol describes the step taken after that point.
Next-step approach
For carefully selected patients meeting specific clinical criteria, a surgical intervention is an option. The goal is a clinically meaningful increase in haemoglobin level. The complete eligibility criteria, patient selection process, and clinical targets are set out in the structured protocol.
References
- Clinical phenotypes are diverse among affected individuals with non-deletional haemoglobin H (HbH) disease (--/αTα).
- Clinical symptoms of non-deletional HbH are generally more severe than those of deletional forms.
- Therefore, splenectomy is recommended in selected patients with non-deletional HbH disease. These indications include severe anaemia that impedes growth and development in the patients with limited access or poor adherence to regular blood transfusions and/or iron chelation, hypersplenism with anaemia, leukopenia, or thrombocytopenia that results in infections or bleeding, or massive splenomegaly with left upper quadrant pain that increases the risk of splenic rupture.
- Splenectomy should generally be avoided in patients younger than 5 years.
- Studies have shown that splenectomy can increase haemoglobin levels by 10-30 g/L and decrease or eliminate the need for blood transfusions in HbH-CS.
View source ↗