2023-11-04 15:09:50
Hemoglobin disorders…inherited ones are more common
Hemoglobinopathies or disorders are rare blood conditions that affect a person’s hemoglobin, the protein in the blood that carries oxygen. These are genetic conditions that may change the shape or quantity of red blood cells in the body.
There are many different cases of hemoglobinopathies. While some can be severe and require treatment, others may not cause any clinical symptoms and do not require intervention. For example, homozygous beta thalassemia major (Cooley’s anemia) is an inherited blood disorder that affects a person’s ability to produce the beta protein, causing anemia, which is the most severe form of beta thalassemia. While hemoglobin E disease is a common but simple disorder, its patients are in good health and do not exhibit any symptoms or problems.
Inherited hemoglobin disorders
The topic “Inherited hemoglobin disorders” was one of the important and prominent topics at the International Conference of the Middle East and North Africa Association of Hematology 2023, which was held in the city of Jeddah last weekend (October 26-28), and four scientific sessions were devoted to it, The speakers reviewed the latest and most modern treatments, especially gene therapy presented by Dr. Andre Klosek from Germany. Dr. Muhammad Nashat from Saudi Arabia presented Medina’s experience in blood transfusion operations, which is a unique experience of its kind around the world. Professor Dr. Ahmed Tarawa also reviewed the latest treatments for sickle cell anemia. Dr. Melinia Kirby from Canada reviewed the latest scientific findings in the field of thalassemia.
Inherited hemoglobin disorders are the most common diseases attributed to defective genes. They fall into two main groups: structural hemoglobin variants including sickle cell disease and thalassemia, which result from defective globin production. The number of carriers has been estimated at more than 270 million and more than three hundred thousand children are born annually with one of the thalassemia syndromes or one of the structural hemoglobin variants. The extremely high prevalence of hemoglobin disorders compared with other monogenic diseases reflects natural selection mediated by relative resistance of vectors once morest malaria falciparum (P).
Other factors that might be involved in widespread practice include the prevalence of consanguineous marriage, increasing maternal age in poorer countries, and genetic drift and its effects. For these reasons, thalassemia is common in Southeast and South Asia, the Middle East, the Mediterranean countries, and North and Central Africa. However, as a result of massive population migration from high prevalence areas, thalassemia is now encountered in most countries. These countries include the United States, Canada, Australia, South America, the United Kingdom, and France, where immigration occurred a century ago, and whose large ethnic minority groups have now entered their fourth and even fifth generations.
More recent migration movements have been from endemic countries to northern and western Europe, where the prevalence of hemoglobin disorders in the indigenous population is very low, including Germany, Belgium, the Netherlands and, more recently, Scandinavia. These changes have challenged health professionals and policy makers across the region in providing equitable access to quality services for the prevention and treatment of hemoglobin disorders.
The epidemiological data available primarily in endemic countries underestimate the future health burden of inherited hemoglobin disorders: effective control of these disorders in these countries will require a great deal of work, financial support, and certainly political commitment. The main difficulty is that the populations of these countries are not homogeneous, as is the case in the Mediterranean countries where early control programs were successful.
Screening programs
Programs aimed at reducing the number of seriously affected individuals follow two approaches:
– Establishing population screening programs and providing advice to educate the population regarding the risks of infection in children.
– Population screening or screening in antenatal clinics. For example, if the woman is the carrier, the partner is examined, and if he is positive, counseling is provided, as well as prenatal diagnosis and termination of affected fetuses.
Prenatal diagnosis programs are now available in the Mediterranean region, which has led to a significant reduction in births with severe forms of thalassemia in several other countries such as China, India, Iran, Lebanon, Pakistan, Singapore and Thailand. Whatever the results, screening programs require proper education of the population regarding the nature of inherited hemoglobin disorders. This education requires input from many sectors of society, including the media, public health workers, local volunteer communities, and the medical community.
Sickle cell anemia
Professor Dr. Ahmed Tarawa, Chairman of the Conference, Chairman of the Board of Directors of the Medina Charitable Hereditary Blood Diseases Society, Member of the Board of Directors of the Saudi Society for Blood Diseases and Disorders, and Consultant Pediatric Hematologist, spoke at the conference, explaining that anemia is one of the hereditary disorders in red blood cells, which leads to deformation of their shape. They become crescent-shaped or sickle-shaped instead of their natural rounded, concave shape. The characteristics of these red blood cells also change, becoming fragile and prone to breaking quickly, and their membranes become hard and lose their flexibility in passing through blood vessels, which may slow down or prevent the flow of blood and oxygen to parts of the body.
The disease is transmitted from parents to children, and its inheritance is recessive if he inherits the disease from both of his parents. However, if he inherits it from his father or mother only, then he is a carrier of the disease and not infected with it, but he can transmit it to his children. Consanguineous marriage in infected families contributes to increasing the infection rate.
• Diagnosis: Sickle cell anemia is diagnosed through a blood test, detecting the presence of hemoglobin (S), which causes sickle cell anemia. Symptoms of sickle cell anemia usually appear at 4-6 months of age. Because the infant in the first six months of his life has a sufficient amount of fetal hemoglobin (F), which protects red blood cells from sickling. These symptoms include:
– Repeated attacks of pain in different parts of the body, which is due to a lack of oxygen reaching the organs, such as: abdominal pain, joint pain, or one of the limbs. The occurrence of this attack increases with dehydration, lack of oxygen, exposure to cold, and extreme exertion.
– Recurring infections due to weak immunity and affected spleen function. The most common of these infections are pneumonia, osteomyelitis, and meningitis.
– Lethargy and fatigue. In some cases, severe anemia may occur and we need a blood transfusion.
– Enlargement of the liver and spleen, and poor liver function leads to yellowing of the eyes, and gallstones and inflammation may occur.
– Foot ulcers, retinal problems, painful penis erection, kidney problems, and stroke.
• Prevention: The most prominent ways to prevent sickle cell anemia in children are the following:
– Avoid consanguineous marriage in affected families.
– Examine the infant early if the parents know that they carry the disease.
– Taking routine vaccines, as well as seasonal vaccines annually, such as the influenza vaccine.
– Giving fluids in sufficient quantities.
– Avoid exposure to cold and keep the patient warm, especially in the winter months.
– Good balanced nutrition.
– Nutritional supplements such as folic acid.
• Treatment: It is by taking:
– Painkillers, such as paracetamol and morphine, are used during attacks.
– Hydroxyurea, which works to prevent painful seizures and stimulates the synthesis of fetal hemoglobin (F).
There are new medications that may help with the treatment of hydroxyurea, such as Voxeltor and Glutamine, and all of these medications are dispensed under medical supervision.
– Preventive treatment with antibiotics to reduce bacterial infections in children.
Bone marrow transplantation from a healthy donor is the only curative treatment, God willing, so far. The recovery rate is high, and many studies are being conducted on gene therapy.
Dental health and blood diseases
Professor Dr. Abeer Abdul Latif Al Namankani, Associate Professor and Consultant Pediatric Dentistry, Taibah University in Medina, chaired a scientific session on pediatric dentistry and its relationship to blood diseases. She gave a lecture on the treatment of children with hemophilia who undergo complete oral and dental rehabilitation under general anesthesia.
One of the most prominent points mentioned in the lecture is that the most common genetic factors in blood diseases are clotting factor abnormalities, and they occur at a rate of 95-97 percent due to hemophilia A or B or von Willebrand disease. Hemophilia A occurs in an incidence of 1 in 300,000 male births, and is the most common type in which the mother is a carrier of the gene for the disease.
Hemophilia patients are more likely than other patients to neglect dental health, which leads to increased tooth decay and associated infections. Local anesthesia should be as limited as possible. As for patients who need the extraction of multiple baby or permanent teeth, it is best for them to be admitted to the hospital before and following each surgical procedure determined by the hematologist.
The decision to admit the patient to the hospital or to perform extractions on an outpatient basis depends on the number of teeth in the expected bleeding sites. During dental treatment under general anesthesia, we follow therapeutic and preventive measures aimed at preventing or reducing blood bleeding by using local sutures and bleeding control materials.
In general, treating dental problems is better than extracting them for hemophilia patients.
The dentist does not need to influence the level and quality of dental treatment; Because the patient has hemophilia; Because poor dental treatment does not prevent complications, but only delays them.
Genetic conditions that may change the shape or quantity of red blood cells in the body
Leukemia
Leukemia (or leukemia) is a malignant cancerous disease that affects the tissues that make blood cells (the bone marrow and the lymphatic system), so that the spinal cord produces deformed and immature cells. These malignant cells accumulate in the bone marrow and prevent healthy cells from maturing that the body needs to carry out its normal functions. .
There are several factors that increase the likelihood of leukemia, including chromosomal abnormalities, syndromes that may increase the likelihood of infection, and there are other external factors. Such as exposure to nuclear radiation and radioactive materials, exposure to chemicals and petrochemicals (such as gasoline).
• Types of leukemia. Include:
– Acute myeloid leukemia (AML).
– Chronic myeloid leukemia (CML).
– Acute lymphoblastic leukemia (ALL).
– Chronic lymphocytic leukemia (CLL).
– Other types that are less common, such as hairy cell leukemia, T-cell lymphocytic leukemia, large granular lymphocytic leukemia, adult T-cell leukemia, and other types.
The most common type is acute myeloid leukemia (AML) in adults, and acute lymphoblastic leukemia (ALL) is the most common type that may affect children.
• Symptoms. It may vary from person to person, and the following are the most important:
– Rapid weight loss, sudden loss of appetite, vomiting, headache, night sweats, fever, bone pain, joint pain.
– Enlargement of the liver and spleen, enlarged lymph nodes, and enlargement of the thymus gland, which may lead to airway obstruction.
– Fever, recurrent infections, chest infections, sepsis.
– Stress and fatigue, shortness of breath, and pale color due to a lack of red blood cells.
– The appearance of bruises on the body, bleeding from the nose and gums due to a lack of platelets.
• Diagnosis: Leukemia is diagnosed following the appearance of clinical symptoms by:
• Clinical examination: The specialist doctor conducts a careful examination, including the lymph nodes and enlarged liver and spleen.
• Taking blood samples and a blood smear; To examine the shape of the cells under a microscope.
• Taking a sample of the spinal cord (spinal fluid) which is examined in a laboratory; To detect cancer cells.
• Treatment: The doctor specializing in oncology and hematology evaluates the condition and decides the type and duration of treatment according to the progression of the disease stage. Treatment ranges between:
– Chemotherapy.
– Radiation therapy.
– Bone marrow transplantation from a healthy donor.
• Prevention: Avoid exposure to radiation, chemicals, and infection with viruses; To reduce the risk of blood and blood tissue cancers.
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