Many things are inherited or passed down to us at the time of our birth in the form of the genes present in our DNA by our parents, let it be our eye colour, texture of hair, different body features, and sometimes even some diseases and disorders. Thalassemia is another inherited blood disorder passed down to a child from either one of the parents or both. The body of a person suffering from thalassemia makes less haemoglobin than that of a normal person. As we know that haemoglobin is not just important but essential as being an iron-rich protein present in the red blood cells, it is responsible for carrying the oxygen to the different parts of the body.
When there is not enough haemoglobin present in the body, the body’s red blood cells don’t function properly and they last shorter periods, so there are fewer healthy This lack of haemoglobin in a person’s body causes anaemia whose severity depends upon the number of genes affected. Here is detailed information about Thalassemia, its types and some common myths associated with the disease which have been debunked by expert Dr Suraj Chiraniya, Hemato Oncology, and BMT, HCH Centre Mumbai
Types of Thalassemia
An inherited blood disorder, thalassemia, mainly has two different types. The person might get affected by the number of defective genes they might have inherited at the time of birth. The two major types of thalassemia that is most commonly observed in people are-
Let us try to understand these two different types of thalassemia in a little detail, along with their causes.
1# Alpha Thalassemia
Also known as haemoglobin H and fetal hydrops subtype alpha thalassemia, this occurs when out of four, one or more genes that control the production of alpha goblins are absent or become defective. It might result in anaemia which might range from being mild which can be treated with the help or iron or folic acid supplements to a severe one which may require lifelong transfusion therapy.
Cause of Alpha thalassemia
The genes responsible for forming haemoglobin in the body alpha thalassemia are further divided into 4 types depending upon its root cause.
Alpha thalassemia silent carrier- When one out of the four alpha-globin genes is missing. The other three function normally, the blood cells become comparatively smaller and being a silent carrier a person might not realize that he/ she is suffering from the disease as the tests might be normal. However, it can still be passed on to the next generation through the damaged gene and the disease would be confirmed in your child’s DNA test.
Alpha thalassemia carrier- A person suffering from this type of alpha thalassemia has two alpha-globin genes and might suffer mild anaemia.
Haemoglobin H disease- When out of four the three alpha globin genes are missing or get damaged it causes this condition of haemoglobin h disease in which a person is left with just one working gene which results in a moderate to severe anaemia, and person’s situation can worsen if he/she is exposed to some kind of medication, infectious agents or chemicals. In this kind of condition, a person is often in need of blood transfusion.
Alpha thalassemia major- A condition which is observed in the children of people suffering from Hemoglobin H disease in which all four alpha-globin genes are absent and cause severe anaemia, and in most of the cases, the child dies before the time of birth.
2# Beta Thalassemia
People suffering from beta-thalassemia have low levels of oxygen in the different parts of the body due to low levels of haemoglobin in blood which causes anaemia and results in pale skin, fatigue, weakness and other such serious complications. People who suffer from beta-thalassemia are at an increased risk of developing abnormal blood clots.
Being the second major type of thalassemia is further divided into 2 main types known as-
1. Major subtype and
2. Minor subtype
Cause of Beta-thalassemia
Beta thalassemia is a disease that is caused due to the mutation in HBB genes which are responsible for the production of a gene known as beta-globin which is a component of haemoglobin. Haemoglobin is a protein compound that consists of four protein subunits, two subunits of beta-globin and two subunits of another protein called alpha-globin.
The lack of beta-globin leads to a reduced amount of functional haemoglobin. Without sufficient haemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells, leading to anaemia and other associated health problems in people with beta thalassemia.
Beta Thalassemia Major- Also known as Cooley’s anaemia beta-thalassemia major is a disorder in which two of the HBB genes are damaged, making this a very severe form of disorder and people suffering from this disorder might need frequent blood transfusions.
Beta Thalassemia Minor- Popularly known as thalassemia trait in this disorder one HBB gene is damaged and hence there are less chances of severe anaemia. This type of beta-thalassemia is further divided into two categories-
Thalassemia minima: A condition with no or very few symptoms
Thalassemia intermedia: A condition causing moderate to severe anaemia
Complications associated with Thalassemia
Although different kinds of diseases come with different complications and after-effects. Here are some complications associated with the inherited blood disorder, thalassemia.
Heart-related issues- In most of the cases of severe thalassemia, a patient experiences abnormal heart rhythms and congestive heart failure.
Iron Overload- Either due to the frequent blood transfusion or the disease itself, a person suffering from thalassemia can accumulate too much iron content in their bodies, which might damage the bodies’ vital organs such as the liver, heart, and endocrine system.
Infection- Thalassemia is a disease that comes with high chances of infection and mostly in the cases in which the spleen is removed
Thalassemia being a dangerous disease, if detected at an early stage can be successfully managed with preventive healthcare checkup on time and hence a patient must suffer from thalassemia major should be offered transplantation before they suffer iron overload related complications or develop end-organ damage
Myths Related to Thalassemia
It is important to keep ourselves educated and spread awareness amongst others as well when it comes to talking about such disease as many people suffering from this chronic disease face stigma due to the myths that have been prevailed for such a long period of time amongst the masses that due to these baseless myths people around the society have to face a loth many problem and biases.
Here we are debunking some common myths related to thalassemia-
Myth 1: A thalassemia major child is born if 2 carriers get married to each other
Fact Check: The preimplantation genetic technique is a method that can be used to select the embryo that does not consist of thalassemia gene along with the aneuploidy test which will ensure that there is a non-thalassemia major birth even though both the parents are the carriers of the disorder.
Myth 2: Thalassemia major cannot treated
Fact Check: Transfusing a child suffering from thalassemia with quality filtered blood regularly can help the thalassemia patient get through the disease until they reach adulthood. Performing an MRI if the organ damage is checked on an early stage would help in best and healthy growth. The other available treatment options for this disease are gene therapy and bone marrow transplant
Myth 3: One should not marry a thalassemia carrier
Fact check: A person who is suffering from thalassemia can get married to anyone and all the couple can get a DNA test done to check which mutation they actually have. In such a case where both the people are the carrier of thalassemia, the expecting mother should undergo an antenatal diagnosis of thalassemia within the 8-10 weeks of pregnancy.
With inputs from Dr Suraj Chiraniya, Hemato Oncology, and BMT, HCH Centre Mumbai
Read more articles on Other Diseases
All possible measures have been taken to ensure accuracy, reliability, timeliness and authenticity of the information; however Onlymyhealth.com does not take any liability for the same. Using any information provided by the website is solely at the viewers’ discretion. In case of any medical exigencies/ persistent health issues, we advise you to seek a qualified medical practitioner before putting to use any advice/tips given by our team or any third party in form of answers/comments on the above mentioned website.