Thalassemia genetic diseases that mostly overlooked

Do you know?

• • In Thailand, there are nearly 500,000 people with thalassemia

• More than 18 millions of Thais have thalassemia carriers/traits

Thalassemia considered as blood disease where abnormality happens to red blood cells causing a chronic condition called “Pale” This disease is mostly found in Thailand including places from around the world. People with thalassemia have their abnormal genes transmitted from their parents. For those having thalassemia carriers are people who either received the abnormal genes from a mother or a father; they have a regular healthy life as others however the gene can still be inherited only from one of the parents.

Types of thalassemia

There are 2 types of thalassemia as follows:

• Alpha-Thalassemia is a carrier that is somewhat more severe than second type it can significantly causes a direct impact to the bone including death to fetus during pregnancy or after a baby is born.
• Beta-thalassemia is a carrier that is unharmful to the body as it only causes jaundice to patients according to hemoglobin abnormality.

Thalassemia severity

Group of severity divided into 3 groups as below:

1. 1. The highest severity level; patients can die from inside of a mother’s womb or after birth; the mother may have high blood pressure, body swollen and pre-eclampsia.

1. 1. Moderate-high severity level; in the first 2 years patients will have the following symptoms such as jaundice, enlarged liver/ spleen including thalassemic facies and unrelated growth development regarding their ages.

1. Thalassemia with mild symptoms means that the symptoms are barely shown parts of them are found after annual check-up or when having a high fever with severe infection; pale and jaundice will suddenly be showing.

Thalassemia diagnosis

Thalassemia can be detected through history taking, physical examination, and blood tests a doctor will screen patient for complete blood count (CBC) together with special blood test approach called Hb typing including DNA analytical process.

Do you know “Thalassemia” can be cured?

Patients should take care of themselves and follow the doctor’s instructions punctually as follows:

• • General health care

• • • Eat 5 groups of food and avoid foods rich in iron such as blood, liver, offal including vitamin or medicines composed of iron as an ingredient.

• • • For children, vaccination should be given same as other kids.

• • • Exercise moderately as soon as feeling tired, stop it immediately and avoid intense workout since the bone may be fractured.

• • • No smoking and alcohol drinking since such habits can worsen your health condition.

• • • Teeth check-up should be examined every 6 months because the teeth easily decay

• • • Having a high fever can risk to severe infection seeing a doctor therefore is recommended

• • Taking folic acid regarding doctor’s prescription; since the body of thalassemia patients in general produce more blood amount than normal people the folic acid therefore is needed.

• • Blood transfusion for pale and fatigue reduction divided into different types as follows:

• • High transfusion this approach is commonly applied to thalassemia patients that are kids with severe condition in order to make them healthier and grow up regarding their age properly the absorption for iron from the digestive system will be decreased the spleen will no be enlarged and facial bone will not be developed or changed. However this approach can cause iron accumulation to the body therefore it is essential for the patients to have iron chelator.

• • Low transfusion this approach is provided to patients when they start feeling fatigued regarding pale condition mostly happen after infected fever.

• • Regular check for excessive iron detection

Thalassemia patients will receive iron from transfused blood (1 ml of red blood cells contains 1.16 mg of iron) and from absorption of more iron than normal in the digestive tract the accumulated iron may damage the heart can cause heart failure including liver and pancreas causing diabetes therefore it is necessary to receive assessment regularly which can be done as follows:

• • Serum ferritin

• • Assessing iron overload in heart and liver using MRI machine

• Liver iron concentration (LIC) using liver biopsy

Who needs iron chelator?

• • Serum ferritin levels is greater than 1,000 ng / ml

• • Thalassemia patients who receive blood transfusion for more than 1 year

• • Thalassemia patients who have received blood transfusion around 10-20 times

• • Treatment by Splenectomy (Spleen Removal) a doctor will consider these following conditions:

• • • The spleen enlarges and compress its connective organs or bigger than 6 cm.

• • • Patients must receive blood more often

• • • White blood cells or low platelets from the enlarged spleen receiving vaccination to prevent infection at least 2 weeks before spleen removal is recommended.

• Stem cell transplantation for thalassemia patients

This is the only way to cure a disease percentage of possibility is between 75-92% however this cannot be given to every patient as there is a risk of danger from the treatment including cost is quite high. Those can receive the treatment are children with severe condition their sibling or people who have the same HLA (stem cell type) are people who can do this transplantation. In fact, there is only person of 4 siblings who will have the stem-cell like patient and be able to participate,while general people with the same HLA 1 person from 10,000 people or 1 person from 1000,000 donators can have their stem-cell matched the patient.

Things to know for those with thalassemia carriers

• • People with the carrier can transmit this abnormal gene to their baby therefore planning before pregnancy is vital for protection a couple should also get their blood tested.

• • Couple with the same thalassemia carrier there is 25% chance of having a child with thalassemia. Therefore, during pregnancy consulting a doctor to receive check-up before labor or deciding to do artificial insemination are recommended.

• Those with thalassemia carrier should advise their relatives or family member to have their blood test as well

Cancer and blood disease center
Phyathai 3 Hospital