Optimizing chronic transfusion therapy for survivors of hemoglobin Barts hydrops fetalis

Abstract

Hemoglobin Barts hydrops fetalis (homozygous a 0 -thalassemia) results from deletion of all 4 a-globin genes.1 It was previously considered a universally fatal condition; however, with recent advances in prenatal care and the availability of intrauterine blood transfusions, an increasing number of patients are now surviving into adulthood.

Homozygous α‐thalassemia: Challenges surrounding early identification, treatment, and cure

“…These cases demonstrate the potential benefits of diverse transplant strategies to cure homozygous α‐thalassemia . Current approaches to HSCT for homozygous α‐thalassemia rely on data from trials for children with β‐thalassemia in whom MUD HSCT survival now approaches 90% . Because younger children with nonmalignant conditions may have better transplant‐related outcomes compared with older children, early counseling on this investigational approach is important .…”

“…Chronic transfusion with aggressive chelation is the current standard of care for homozygous α‐thalassemia. Recent disease‐specific evidence can guide this approach . Using simple transfusions for Patient 2 was challenging because his hemoglobin H remained high.…”

“…Recent disease-specific evidence can guide this approach. 4 Using simple transfusions for Patient 2 was challenging because his hemoglobin H remained high.…”

“…Surviving children have developmental delay, congenital anomalies, cardiac dysfunction, and transfusion dependence with associated iron overload. 3 The prognosis of homozygous -thalassemia is shifting because of prenatal molecular diagnostic techniques, intrauterine transfusions (IUT), 4,5 improved transfusion strategies, 4 and rarely curative hematopoietic stem cell transplant (HSCT). Because few children with homozygous -thalassemia survive, clinical trials to assess these treatment approaches are lacking.…”

Management of haemoglobin Barts hydrops fetalis syndrome with exchange transfusions

“…2 However, haemolytic anaemia, rather than ineffective erythropoiesis, is the predominant disease contributor. 4 Traditional transfusion programmes are unlikely to suppress significantly levels of non-functional HbH, which has a very high affinity to oxygen, making it ineffective at delivering oxygen to tissue. Therefore, the functional Hb (total Hb × (100% − HbH%)) is a better measure of oxygen delivery capacity, rather than the total Hb itself.…”