In order for the body to function correctly, oxygen must be transported effectively. In healthy people, hemoglobin in the red blood cells ensures that oxygen can be delivered to the appropriate cells.
However, when alpha thalassemia occurs, the production of hemoglobin is lowered. This results in a lack of oxygen in cells around the body.
Caused by faulty HBA1 and HBA2 genes, the disorder is hereditary in nature. Although alpha thalassemia can be acquired in very rare cases, most patients with the condition will have inherited it.
Patients with alpha thalassemia may also suffer from gallstones, jaundice, and fatigue. Straightforward blood tests may indicate anemia but further testing must then be conducted in order to determine whether hereditary anemia is present.
Although alpha thalassemia can be a serious illness, the severity is dependent on the number of genes affected. If only one gene is distorted, the effects of alpha thalassemia may be minimal and the patient may experience few symptoms. However, if all four of the relevant genes are affected, alpha thalassemia major occurs and this can have a more devastating effect on patients.
Whether or not an alpha thalassemia pregnancy is dangerous will largely depend on how the condition affects the mother and what genes are passed on to the fetus.
If only one or two genes are affected by alpha thalassemia, the individual may have no symptoms at all or may present with a relatively mild form of anemia. Even if three of the four genes are affected, the patient may only require treatment after birth. This means that an alpha thalassemia pregnancy may not present a serious danger to the fetus in such cases.
When alpha thalassemia major occurs and all four genes are affected by the condition, however, it can cause numerous issues throughout pregnancy. Unless treatment is prescribed to the fetus in utero, the condition will normally prove to be fatal. However, appropriate treatments can be used to manage an alpha thalassemia pregnancy.
For example, blood transfusions can be given to the fetus in utero. By increasing the number of red blood cells present, the effects of alpha thalassemia are minimized, allowing the fetus to survive until birth. Once labor is complete, the baby can continue to receive blood transfusions, if required.
Although an alpha thalassemia pregnancy can be worrying for the prospective parents, a child is only at risk of developing alpha thalassemia major if both parents have, at least, two non-functioning genes. This increases the chances of the fetus developing alpha thalassemia major to one in four.
Fortunately, pre-natal testing can be used during an alpha thalassemia pregnancy. Firstly, preliminary screening can be offered to the potential parents in order to determine the severity of the condition.
If further testing is required, pre-natal testing can confirm whether or not the fetus is affected by alpha thalassemia major. If so, it’s essential that treatment is commenced, both for the health of the fetus and mother.
A fetus with alpha thalassemia major will develop heart problems without appropriate treatment. Excess fluid will build up around the heart, lungs, and intestines, resulting in additional stress being placed on the heart muscle. This is also known as fetal hydrops. Without intervention, this is likely to result in fetal fatality. However, the health of the mother must also be considered. If extreme fetal hydrops occurs, the mother may develop ‘maternal mirror syndrome’. This is when the mother’s body mimics the symptoms of the fetus.
If maternal mirror syndrome occurs, it is extremely serious and a major risk of an alpha thalassemia pregnancy. Once the syndrome presents, the fetus must be delivered immediately, in order to reduce the risk to both the fetus and mother.
With the appropriate interventions and treatment, an alpha thalassemia pregnancy can certainly be successful. Even if alpha thalassemia major is present, commencing treatment quickly can reduce the risk to the baby and the mother. However, genetic testing prior to conception may enable potential parents to evaluate the risk of a subsequent pregnancy. If they are at high risk of developing an alpha thalassemia pregnancy, additional monitoring can be put in place.
If physicians are aware that the risk of alpha thalassemia is increased, they can provide the appropriate treatment, thus reducing the risk of potential complications and enabling the fetus to be delivered at full term.