What is the cause and treatment of thalassaemia trait?
Q: I am 36 years old and suffer from microcetemic. I underwent many examinations, but so far no solution has been found. I look very healthy and weigh 83 kg and am 6 feet tall. I am single. The blood test report is as follows: Eritrociti - 6530.000; leucociti – 8040; emoglobina - 12.7; MCV - 63.1; neutrofili - 59.0; piastrine – 257000; PTT - 19.1; bilirubina total - 4.5; dir - 0.60; sodio – 142; potasio - 5.40; cloro – 106; calcio - 9.20; Hb A2 - 5.3; Hb F - 1.5; protine totali - 7.1; albumina - 53.60; alfa 1 - 3.30; alfa 2 - 8.80; beta - 14.10; gamma - 20.20. Holter results: medium - 54 bpm; minimum – 35; maximum – 101; Ectopici ventricolari – 79; VE – 1; Ectopici SV – 73; run SV – 8; Pause high - 1.8; 1424 minuits of Ecg. T3 - 2.9; T4 - 14.6; TSH - 1.36; PCR - 0.69. Echocardiogram says heart contractions are good FE 66%; normal and good. I have been suffering imbalance and weakness. I feel like someone is pushing me and get lots of pain especially near the left of the heart. Most of the test reports say that I am fully all right, but I know there is something wrong, I was not like this before. Please advise.
A:Your complete blood count values (microcytic hypochromic anaemia with elevated red cell counts) and raised Hb A2 are consistent with the diagnosis of thalassaemia trait. Thalassaemias are a group of genetic diseases caused by the production of abnormal haemoglobin, the red coloured protein present in red blood cells that transports oxygen in the body. Haemoglobin comprises two beta (b)-globin and two alpha (a)-globin chains, their production being governed by 2b and 4a genes respectively. In b-thalassaemia, the production of b-chain is abnormal while in a-thal it is the a-chain. When only one beta-globin gene is affected (thal minor or trait or carrier), it results in mild anaemia not requiring treatment but the involvement of both genes results in severe disease (thalassaemia major or intermedia) requiring regular treatment and follow-up from infancy. The normal Hb A2 level in an adult is less than 3.5% and it is elevated (>4%) in b-thalassaemia trait. Beta thalassaemia trait (or heterozygous b-thal or thal minor or thal carrier) is a clinically benign disorder. The importance lies in the fact that if both parents are carriers (i.e. carry one abnormal b-gene), an offspring may co-inherit a b-thalassaemia gene from both the parents making it homozygous resulting in a medically significant thalassaemia (b-thalassaemia major). Persons with thalassaemia minor have mild anaemia (slight lowering of the haemoglobin level in the blood). This situation can very closely resemble that with mild iron-deficiency anaemia. If your iron studies (serum ferritin, serum iron & TIBC) show concomitant iron deficiency, then iron supplement will help. Taking folic acid supplements twice a week will help.