Recent studies suggest that using umbilical cord blood from a newborn sibling may be as effective as a bone marrow transplant

Is there a cure for thalassemia?

Some children with thalassemia can be cured with a bone marrow transplant. However, this form of treatment is most successful when a donor who is an exact genetic match is available. Generally, a sibling or other family member is most likely to be an exact match. The procedure can cure about 85 percent of children who have a fully matched family donor 9(). However, only about 30 percent of children with thalassemia have a family member who is a suitable donor (4). The procedure is risky and can result in death.

Recent studies suggest that using umbilical cord blood from a newborn sibling may be as effective as a bone marrow transplant (9). Like bone marrow, cord blood contains unspecialized cells called stem cells that produce all other blood cell.

What research on thalassemia is being done?

Scientists are working on better ways to remove excess iron from the body to prevent or delay iron overload. They are developing and testing new oral iron-chelating drugs and looking at whether combining one of these drugs with deferoxamine may be more effective than either treatment alone (1, 2).

Researchers are studying the effectiveness of certain drugs (including hydroxyurea, a drug used to treat sickle cell disease) in reactivating the genes for fetal hemoglobin. All humans produce a fetal form of hemoglobin before birth. After birth, natural genetic switches "turn off" production of fetal hemoglobin and "turn on" production of adult hemoglobin. Scientists are seeking ways to activate these genetic switches so that they can make the blood cells of individuals with beta thalassemia produce more fetal hemoglobin to make up for their deficiency of adult hemoglobin. Studies to date suggest that treatment with these drugs may be helpful for some patients with beta thalassemia intermedia (2).

Researchers also are exploring the possibility that dietary treatments, such as with vitamin E, may help reduce organ damage from iron buildup (1, 6). Others continue to improve bone marrow transplantation methods that may offer a cure to more children with thalassemia.

March of Dimes grantees have been among the many scientists seeking to develop an effective form of gene therapy that may offer a cure for thalassemia. Gene therapy may involve inserting a normal alpha or beta globin gene into the patient’s stem cells, possibly allowing these immature blood cells to produce normal red blood cells.

Radiofrequency ablation of the spleen in patients with thalassemia intermedia: a pilot study.

Research article summary (published 29 Apr 2009):

OBJECTIVE:
We investigated the efficacy and safety of radiofrequency ablation on the hematologic parameters in patients with thalassemia intermedia (TI).

MATERIALS AND METHODS:
Radiofrequency ablation of the spleen was performed in 15 children with TI under general anesthesia using a cool-tip radiofrequency probe. These patients were regarded as the radiofrequency ablation group. Nine patients with TI who underwent partial splenectomy during the past 3 years and another 14 patients with TI who underwent total splenectomy were also enrolled in this study as the first and second control groups (CG1 and CG2).

RESULTS:
In the radiofrequency ablation group, two (13%) patients showed a significant increase in the mean hemoglobin level compared with the year before (1.5 and 1.8 g/dL). In addition, three (20%) other patients became transfusion-free in the year after radiofrequency ablation. In CG1, one (11%) patient showed a significant increase in hemoglobin the year after partial splenectomy, and another two (22%) patients became transfusion-free. In CG2, six (43%) patients revealed a significant increase in hemoglobin in the year after total splenectomy, and another four (29%) revealed a significant decrease in the need for transfusions. The mean increase in hemoglobin and platelet count was more significant in CG2 than in the radiofrequency ablation group and CG1. The mean hospital stay was significantly shorter in the radiofrequency ablation group (1.7 days vs 7.5 and 8.2 days in CG1 and CG2, respectively).

CONCLUSION:
We believe that radiofrequency ablation of the spleen can be a safe procedure in patients with TI and is at least as effective as partial splenectomy, having only minor self-limiting complications.