Thalassemia major

General Medical Guideline
Last modified
19 September 2019

Treatment for thalassemia has dramatically improved. People with thalassemia should live full lives with careers and children of their own. Unfortunately, many patients die prematurely or develop morbid preventable complications. Outcomes are far better for patients whose care is coordinated.

For individuals with more severe forms of thalassemia, lifelong blood transfusions are the mainstay of therapy. Un-transfused children with severe thalassemia often do not survive beyond the age of  5 years.

Intermittent red blood cell transfusion is the required support for individuals with thalassemia major, often starting before the age of one year. Transfusion history should be recorded to assess the ongoing transfusion iron intake. It is recommended to record the red blood cell antigens before transfusion, including ABO, RhD, C, E, and Kell.

Children with Thalassemia should receive all age-appropriate immunizations, including Hepatitis B and should be serologically tested for Hepatitis A, B, C, and HIV.

In transfusion dependent individuals iron overload usually starts at the age of 1-2 years.. When ferritin exceeds 1000 [Mass/volume] chelation therapy should be considered.

Liver iron overload can be monitored by MRI (ferrican). Hepatic transaminase and liver function tests (alanine transaminase test and aspartate test) should also be monitored.

Cardiac iron overload causes arrhythmias, left heart dysfunction and eventually cardiac failure. Echocardiogram and heart MRI (cardiac T2*) have been used to monitor cardiac iron overload.

Hypogonadism occurs in about 50-60 % of individuals with thalassemia, due to iron overload even though they are well monitored. Hypogonadism can manifest as delayed signs of puberty. Annual monitoring of gonadotrophins (FSH and LH), early monitoring of testosterone (in males) and estradiol in females can be helpful to detect hypogonadism when children reach puberty.

Individuals with thalassemia are at risk of developing diabetes mellitus. An oral glucose tolerance should be considered when diabetes mellitus is suspected.

The prevalence of hypothyroidism is diagnosed by an elevated level of TSH and free thyroxine should also be monitored.

As there is an increased risk of hypoparathyroidism, calcium metabolism and 25-hydroxyvitamin D should be monitored.

All individuals with thalassemia major are at risk of bone loss, fractures and bone pain from puberty and thereafter.

The sole curative therapy currently available is stem cell transplantation.

‘ The majority of children with thalassemia are born in low-income countries. Worldwide, transfusion is available for a small fraction of those who need it, and most transfused patients will die from iron overload unless an available and potentially inexpensive oral iron chelator is licensed and used more widely.’ (Modell and Darlison, 2008)

Rare Condition

Thalassemia major or Beta Thalassemia

The thalassemias are a group of genetically (inherited) blood disorders that share in common one feature; the defective production of hemoglobin which is the protein...

Diseases
ICD

D56.1 Beta thalassemia major