Thalassemia — a disease caused by hemoglobin

Thalassemia is not just one, but a group of similar diseases, inherited and caused by impaired synthesis of the protein part of hemoglobin. The disease gets to the child with a probability of 100%, if one parent contains a modified gene. Therefore, it is considered the most common genetic disorders.

The highest number of cases registered in the countries situated on the shores of the Mediterranean, on the African continent, Central Asia, and India. Among the population of Azerbaijan every tenth has modified genes.

A bit of history

The disease was first described in 1925, American pediatricians, who in the treatment of immigrants from Italy showed the same clinical picture in children with severe anemia, enlargement of liver and spleen, changes bone.

Then came the work, describing in more mild disease in adult patients. The term "thalassemia" was offered in 1936. Literally it means "disease of the sea coast". Suggested connection of the disease with impaired synthesis glavinovich chains.

Why red blood cells are destroyed?

• alpha-thalassemia;
• beta-thalassemia.

The most common beta-thalassemia. It is characterized by excessive accumulation of α-globin chains.

Identified as a rare form of the disease, which are called gamma - and Delta-thalassemia. The group included:

• some of hemoglobinopathies;
• homozygous alpha thalassemia with hydrops of the fetus;
• mixed β - and δ-thalassemia when the affected at the same time the Delta - and beta-chains.

Each form has its own typical clinical manifestations and differences. But depending on the severity are usually distinguished:

• chronic light — people live to old age;
• chronic moderate — patients do not survive childhood;
• severe — the child dies in the neonatal period.

Clinical manifestations of thalassemia large

The symptoms of thalassemia depend on the clinic and the time of the manifestation from gene mutations.

Most thalassemia (Cooley's disease) develops when the transmission from homozygous parents. Its manifestations are visible in children immediately after birth.

Newborn notice:

• extended up the skull ("tower");
• a more developed upper jaw;
• the Mongoloid type of the facial skeleton.

Diagnosis

Diagnosis of thalassemia must begin with genetic counseling of the spouses before the conception of the child. During pregnancy, if necessary, carry out analysis of amniotic fluid. Already in the early stages in the erythrocytes of the fetus can detect characteristic changes.

Sometimes an external examination and clarification of family history allow you to suspect illness in a child without a labdiagnosis.

In the analysis of blood revealed:

• the reduction of hemoglobin (30-50 g/l in homozygous variant and up to 90 -110 g/l heterozygous;
• low color index (less than 0.5), which forms a low saturation of cells by hemoglobin);
• the increase of reticulocytes (erythrocyte precursors) to 4%.

When viewing the stained smears under the microscope pay attention to the following:

• the presence of weakly colored (hypochromic) red blood cells;
• change the size and shape of red blood cells, red blood cells takes the form of an oval, sickle, globe.

One of the characteristic species of sickle-shaped cells — drepanocytic.