Molecular Analysis for Beta Thal Intermedia

Dear All,

We just received my son DNA test and we would really appreciate any inputs or you can provide me with any link/pages that have an explanation on understanding my son thalas condition.

here is the result :

confirms that a compound heterozygote for HBe and B-Thalasemia.He possesses the B-globin mutation at CD26 (HbE:GAG->TAG) and IVSI (G->C)

Thank You for your time.

The  combination of HbE with IVSI (G->C) is quite common, but the outcome is unpredictable, as it usually is with HbE beta thal. The PSU database lists this combination as having a typical hemoglobin level of 7, which is the borderline for when transfusions are always recommended. This is similar to thal intermedia and transfusions are determined by need. Folic acid is specifically recommended.

Hai andy,

tq for your input.We currently monitor his HB.His appointment is every 3 weeks.He i 1st transfuse when he is 9 month old and just recently transfuse after Hb drop below 6.The interval between the transfusion is 6 month.

He is taking 2.5ml folic acid,2.5 ml wheatgrass and 2.5ml multivit without iron.