National Thalassemia Day 2022: Pregnancy In Women With Thalassemia

Every year on 8 May, World Thalassemia Day is observed. The day is dedicated to raising awareness about thalassaemia among the general public and assisting the global thalassaemia community in connecting and advocating for changes to improve patients' lives and well-being.

Thalassemia is an autosomal recessive blood disorder, a kind of genetic disorder in which the body's haemoglobin synthesis is reduced or suppressed. The condition is known to weaken and destroy red blood cells, interfere with the body's production of haemoglobin, and results in mild or severe anaemia.

Pregnancy in women with thalassemia is associated with many complications, if not early diagnosed or managed.

In this article, we will discuss details on pregnancy in women with thalassemia. Take a look.

What Is Thalassemia?

Thalassemia is characterised as a group of hereditary blood disorders in which normal haemoglobin production in red blood cells is reduced. Haemoglobin is a protein found in red blood cells that help transport oxygen throughout the body. Anaemia is caused by a decrease in haemoglobin levels in the blood. [1]

Depending on which protein chain of the haemoglobin molecule is lacking in the red blood cells, thalassemia is divided into two types: alpha-thalassemia (if alpha-globin chains are missing) and beta-thalassemia (if beta-globin chains are missing). [2]

Thalassemia is further divided into three groups based on severity: thalassemia major, thalassemia intermedia, and thalassemia minor, which may or may not cause any symptoms.

Thalassemia And Pregnancy

Thalassemia during pregnancy is linked to many complications to both the mother and the foetus. As thalassemia is often diagnosed within the first two years of life, patients with the condition grow up knowing about their condition.

This is the reason why many women with thalassemia often express that their expectations related to pregnancy is low, knowing about their condition and its related symptoms and complications like the enlarged spleen and irregular periods.

How Does Thalassemia Affect Fertility?

Women with thalassemia, especially those with severe forms like beta-thalassemia major, undergo frequent, lifelong blood transfusions. Studies say that this process causes iron overload in their bodies that lead to damage to their reproductive function and cause conditions like Hypogonadotropic hypogonadism.

According to a study, around 51-66 per cent of thalassemia patients have some of the other reproductive system developmental problems like sexual dysfunction, pubertal failure, short stature and infertility.

The pituitary gland, which helps stimulate or produce reproductive hormones in our bodies, can accumulate iron in larger amounts due to iron overload in the body.

Luteinizing hormone (LH) and follicle-stimulating hormone (FSH), oestrogen, and testosterone are all gonadotropins and growth hormones that are necessary for us to reproduce. Iron overload causes the pituitary to shrink, which can be irreversible and can get deposited in the ovarian tissue leading to egg destruction. [3]

How Does Thalassemia Affect Women During Pregnancy?

The dysfunction of the gonadotropins and growth hormones hampers the normal functioning of the reproductive system. The condition leads to infertility in women by affecting the egg maturation, its fertilisation, development of the embryo and thus, overall pregnancy.

According to a study, in patients with thalassemia intermediate, some of the complications during pregnancy may include fetal loss, miscarriages, preterm delivery, poor growth of the foetus and thrombosis. [4] This is mainly due to an increase in oxidative stress in the body due to iron overload.

Another study says that thalassemia may lead to complications like liver dysfunction leading to diseases like diabetes, which can, in turn, affect fertility in women. [5]

Diagnosis Of Thalassemia

Thalassemia pregnancy is considered a high-risk pregnancy. It is critical that the expectant parents go for antenatal examinations on a regular basis so that the health of the mother and baby can be constantly examined.

This makes family planning very important. Before planning to start a family, partners must be tested for Thalassemia with a test called haemoglobin electrophoresis or a related test called High-Performance Liquid Chromatography (HPLC test). [6]

A blood test called a Complete Blood Count (CBC) must also be carried out to assess the number of red blood cells and any abnormalities in the Hemoglobin content.

If the test results show that both you and your partner have a Thalassemia trait then

• There's a 25 per cent possibility you won't have the condition (Thalassemia major) or that you'll become a carrier.
• There's a 50 per cent probability of becoming a carrier (Thalassemia trait).
• You have a 25 per cent chance of contracting the condition (Thalassemia major).

How To Plan Pregnancy With Thalassemia?

During the preconception counselling or during the first-trimester prenatal test, women are often diagnosed with beta-thalassemia minor. [7]

In this case, couples often decide to carry on with the pregnancy, if one or both parents have a Thalassemia trait and the foetus is found to have Thalassemia mild.

In case Thalassemia major is detected in the foetus, couples must make an informed decision whether to continue with the pregnancy or not, considering the facts about the child's life expectancy, the treatment and transfusions they could need every 2-4 weeks.

Couples with Beta-Thalassemia Major may choose IVF treatment and pre-implantation genetic testing to determine whether or not the disease is present in the embryo. These procedures reduce the chances of transmission of the diseases as only the embryos that are free of the disease can be implanted in the uterus. [8]

The couple must be in regular antenatal consultations with a gynaecologist, foetal medicine specialist, and hepatologist after becoming pregnant.

To Conclude

Women with thalassemia who are planning to conceive must consult a medical expert before trying to get pregnant and throughout the pregnancy.