Hereditary blood disorders

Hereditary disorders transmit from parents to children genetically (genes) that are located in the nucleus in a part called chromosomes. The newborn inherits half of the genetic characteristics from the mother while the other half inherits from the father. There are some diseases transmit in the dominant process which means that one gene needs to be inherited from one of the parents for the disease to be transmitted, or in the recessive when it needs the genetic characteristic to transmit from both parents in order to inherit the disease.

Hereditary blood disorders: Due to a genetic defect that results from a change in amino acid in the chromosomes, the red cells’ that work in the body is affected. That will lead to rapid damage in the red cells, hypoferremia, and many other symptoms.

Types of hereditary blood disorders:

The most important types of hereditary blood disorders:

Thalassemia

Hemoglobin is the important substance found in red blood cells and it consists of two “alpha” series and two “beta” series. Both must be in identical amounts in order to produce hemoglobin. If the production’s amount in one of the two series decreases, it causes anemia called thalassemia. If “alpha” is reduced, it is called “alpha” thalassemia. if “beta” is reduced, it is called beta-thalassemia.

Beta-thalassemia β

It is a hereditary disorder that affects the blood in which the body is to form sufficient series of beta series in the hemoglobin. This will lead to rapid damage in red blood cells and thus to anemia. The disorder does not usually appear at birth, yet the symptoms appear quickly within the first year.

Patients with beta-thalassemia suffer from severe blood deficiency and symptoms of anemia from an early age, usually during the first six months of life. It leads to weakness, fatigue, and slow growth. Therefore, doctors give these patients blood transfusions and they have to bear the consequences that may result. Moreover, the only successful option for such cases is bone marrow transplantation from another person genetically identical to this patient. Beta-thalassemia is widely spread in the Mediterranean countries, the Middle East, and South Asia, where it is called Mediterranean anemia. The beta-thalassemia is about 2-3% of the total citizens of the Sultanate while the affected people are 0.07% of the total citizens. It is widely spread in Al Batinah North Governorate, Muscat Governorate, and Ad Dakhiliyah Region.

Alpha-thalassemia a

Hemoglobin consists of four series of the alpha gene. If a gene is damaged (−α/αα), symptoms may not appear, but the patient is a disease carrier and the disease can be transmitted to the children. When two genes (−α/−α) are damaged or absent, the symptoms will be mild and that is called alpha thalassemia. The absence of three genes produces severe symptoms while the absence of the four genes results in the death of the fetus in the womb or shortly after giving birth. Alpha-thalassemia gene carriers are 45% −α/−α while carriers of the −α/αα gene are 44%**.

2- Sickle cell anemia SCA:

According to the latest field study in Oman, the disease carriers from children under five is 6% while the disease is 0.2%. It is widely spread in North Ash Sharqiah, Ad Dakhiliyah, Muscat, Al Batinah South Governorate, and Musandam.

There is no medicine that eliminates sickle cell anemia, but the patient is given painkillers, folic acid, and penicillin, especially for children. There are also attempts to mitigate the effects of this disorder by using hydroxyurea.

In the last few years, there have been good breakthrough regarding bone marrow transplantation for this disorder as a radical solution for it.

3- Glucose-6-phosphate dehydrogenase disorder or (G6PD)

It is defined as a deficiency in a certain type of enzymes which are necessary for the metabolism of red blood cells. This deficiency may cause severe anemia if the affected person is exposed to some infections accompanied by high temperature or takes certain medicines or some legumes such as beans. Yet, the affected person will be completely healthy if he/she is not exposed to these influencing agents. The mother who carries the gene that is responsible for enzyme (G6PD) deficiency on one of the X chromosomes can transmit it to her male and female children alike. Herein, the males are affected and the females are carriers of the disease with 50%. Nevertheless, the father who carries the same gene of the X chromosome can only transmit it to his daughters and they become carriers of the disease.

Glucose-6-phosphate dehydrogenase deficiency is the most common enzymatic disorder in the world, with about 100 million affected people. This disorder spreads widely in Mediterranean countries such as Greece, Cyprus, Egypt, Iran, Iraq, and among the black people in America, Africa, and in Asia such as the Philippines and India. According to the latest study conducted in the Sultanate of Oman, the prevalence of the disease was observed by 17.9% among children under five years. (28% among males and 12% among girls)

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Hereditary blood disorders

Types of hereditary blood disorders:

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