α-thalassemia

α-thalassemia

Alpha -thalassemia is a special form of thalassemia. In α-thalassemia, two genes called HBA1 and HBA2 are affected, leading to the manifestation of the disease. The symptoms of α-thalassemia arise as a result of reduced production of certain globin chains. The patient’s symptoms depend primarily on the respective phenotype of the α-thalassemia and the impaired globin chains.

What is α-thalassemia?

Basically, α-thalassemia represents a disturbance in the production of alpha chains, which are found in the protein of hemoglobin. The prevalence of α-thalassemia is closely related to the occurrence of the tropical disease malaria. Alpha-thalassemia is basically a [hereditary disease|hereditary disease]], which at the same time protects the affected people from contracting malaria. For what is the definition of car, please visit healthknowing.com.

For this reason, α-thalassemia primarily occurs in Central Africa, Southeast Asia, the Mediterranean region and the Middle East. There are different genetic characteristics of α-thalassemia, which occur with different frequencies in the respective areas. In the United States of America, for example, the α-(3,7) deletion currently dominates.

It is estimated that approximately 30 percent of all African Americans living in the United States suffer from this condition. However, the disease only manifests itself in very mild symptoms in those affected, even if the α-thalassemia is homozygous. The patients mainly suffer from the symptoms of a weak microcytic anemia.

In principle, α-thalassemia is a hereditary disease that primarily affects two genes. The inheritance pattern of α-thalassemia is recessive in the majority of cases. This results in the deletion of a specific chromosome. In rare cases, people acquire α-thalassemia in the course of life as a result of special influencing factors. Basically, doctors sometimes confuse α-thalassemia with iron deficiency anemia because of the similar symptoms.

Causes

The α-thalassemia is a hereditary disease with globally differently distributed occurrence. Basically, the chromosome 16p is responsible for the coding of alpha chains. The short branches of the chromosome are particularly relevant here. During meiosis it is possible that the alpha globin genes are lost. Far more rarely, the cause can be found in a point mutation.

Alpha-thalassemia can be divided into three different subtypes, based on the number of globin genes affected and the symptoms. The α-thalassemia minima is characterized by a single missing gene. This genotype usually causes no symptoms in the affected person’s phenotype, so the disease usually goes unnoticed.

Alpha-thalassemia minor is associated with an impairment of two genes and causes mild symptoms of hypochromic microcytic anemia in affected patients. In α-thalassemia major, three genes are affected by the disorder. This creates abnormal hemoglobin molecules. Individuals suffer from hemolysis and resultant splenomegaly.

Sometimes the so-called Hb-Bart’s disease occurs, in which four genes are affected by the disease. In this case, too, hemoglobin molecules with pathological significance develop. This form of α-thalassemia is the most serious variant of the disease. It leads to the formation of what is known as hydrops fetalis, so that the affected embryos usually die in the womb.

Symptoms, Ailments & Signs

The symptoms of α-thalassemia are similar to the general symptoms of anemia. The affected patients usually feel exhausted and tired, their physical performance is impaired and they often suffer from dizzy spells. In addition, many people suffering from α-thalassemia often feel pain in the head area and exhibit exertional dyspnea and tachycardia.

In the case of the particularly severe form of α-thalassemia, those affected also suffer from the typical symptoms of haemolysis. These are expressed in splenomegaly, jaundice and sometimes hypersplenism.

Diagnosis & course of disease

Diagnosis of α-thalassemia requires a medical specialist who, after taking the medical history, will perform various blood tests and genetic tests on the patient. During the consultation with the patient, the doctor attaches particular importance to the family history in order to identify possible cases of illness in the relatives of the person and thus to obtain information on the present α-thalassemia.

During the clinical examination of the patient, the doctor first carries out a complete blood count using laboratory analysis methods. He determines, for example, the Mentzer index and the hemoglobin content in the blood. Important parameters of the blood test are also the indirect bilirubin and the proportion of haptoglobin. Finally, a genetic examination of the patient is usually required to reliably diagnose α-thalassemia.

When should you go to the doctor?

If the person concerned suffers from a lack of energy, sluggishness, exhaustion or tiredness, it is advisable to have the symptoms clarified by a doctor. These are warning signals from the organism that should be followed up. Various medical tests must be carried out to make a diagnosis. There is cause for concern if they tire easily, become lethargic, apathetic, or withdraw from social and community life. If the symptoms persist over a longer period of time or if they become increasingly intense, a comprehensive examination should be initiated. A loss of zest for life, a depressed mood or a low level of emotion can indicate an existing health disorder.

Those affected are usually considered to be lacking in emotion and therefore often experience social conflicts. Dizziness, unsteady gait and low physical resilience should be discussed with a doctor. If sporting activities represent a challenge and burden for the person concerned, the observations should be reported to a doctor. A sluggish appearance, behavioral problems, cognitive deficits and delayed reactions are further signs of a health disorder. Since it can lead to secondary diseases and complications in everyday life, a doctor’s visit should be made. Heart rhythm disorders and abnormalities in blood pressure must also be examined and treated.

Treatment & Therapy

Most forms of α-thalassemia usually do not require therapy. Only Hb Bart’s disease requires treatment. The sick people receive erythrocyte concentrates and drugs that contribute to the production of iron complexes. If patients suffer from hypersplenism, a splenectomy is usually necessary.

Prevention

Concrete preventive measures regarding α-thalassemia have not yet been researched. Individuals affected by α-thalassemia have the disease from birth. Medical research studies are working on ways to prevent α-thalassemia. However, it should be noted that α-thalassemia provides some protection against malaria. In certain parts of the world, such protection is more relevant than avoiding possible mild symptoms of α-thalassemia.

You can do that yourself

A thalassemia itself cannot be treated by general measures or natural remedies. However, the parents of affected children can take some measures to improve the well-being of the child and to positively influence the course of the disease.

First of all, a good observation of the child is important. The various symptoms can appear suddenly and should be examined and treated promptly. The prescribed medication must be taken strictly according to the doctor’s instructions. In the event of a deviation from the specifications, the pediatrician must be informed. If three alleles are affected, the child may be poorly oxygenated. It is important to compensate for this with moderate exercise and a regular supply of fresh air. In addition, the child must have regular medical check-ups.

If four alleles are affected, the child usually dies in the womb. Then the most important measure is early and comprehensive trauma therapy. Parents and loved ones should consult a therapist who can help manage the grief. The death of the child represents a great emotional burden for the relatives, who often need years or even decades to overcome the trauma. Therefore, professional help should always be sought if the child dies from type A thalassemia.

α-thalassemia