2. SIGNIFICANT GENETIC DISEASES
Genetic diseases which are often found are thalassemia, hemophilia, color blindness, albino disease, diabetes, and down’s syndrome or other disorders which can be inherited from the parents. These may cause a lot of problems such as crippling or death if it is not diagnosed before getting married. These will affect people and their family’s ways of life. Therefore, it is advisable for the couples to have their physical checkup before getting married or getting pregnant.
2.1 THALASSEMIA
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. It is equally found in both females and males and is inherited from parents in countries all over the world as well as in Thailand.
In Thailand, 1 percent of the patients of thalassemia, 30 -40 percent of whom (about 20 -25 million) are carriers. When these patients are married, their children may also have this disease. It is estimated that there are about 500,000 persons with this disease. Thalassemia can result in anemia since it produces red hemoglobin bringing oxygen to every part of the body. Normal hemoglobin is composed of alpha globin and non-alpha globin with the proportion 1:1. Usually, the leftover will be accumulated in the cells in the forms of an unstable product which can easily destroy cells.
Types and Symptoms
Thalassemia can be categorized into two parts, which are alpha thalassemia and beta thalassemia. Beta thalassemia results from the beta in hemoglobin is not completely produced, so it causes less oxygen delivery. Beta thalassemia consists of different types according to the genes.
If one of the two types of the genes are not completely produced, it can result in severe anemia. In this case, the patient inherits disordered genes from parents.
If the anemia is not severe, it is necessary to frequently get blood transfusions. The patients can live a long time until they are adults. However, if there is severe anemia, it may cause death. The symptoms usually begin when the patients are six months old, but they can live longer if they are frequently given blood. Anyway, they will sooner or later lose their lives since organs like the heart and liver are destroyed.
Thalassemia is spreading in South East Asia and around the Mediterranean.
2.2 ALPHA THALASSEMIA
ALPHA THALASSEMIA occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). It is spreading most rapidly in South East Asian countries such as Thailand, China, the Philippines, and some parts of Africa. You must inherit a gene from both parents to develop Alpha major. if there is any disorder concerning producing this gene, there will not any effect except passing it along to your children. However, disorderly production of the alpha 2 gene will cause only a little anemia and treatment is not necessary. On the contrary, disorderly production of alpha 3 genes will result in anemia, the symptoms of which varies from less severe to most severe. Sometimes it may be called “hemoglobin H”; the patient needs to get more blood. What is more, if something is wrong in producing alpha 4 gene, the patient will die in a short period of time which is called “hemoglobin bard”.
The potential carriers are as follows:
- A person who has relatives who have the disease.
- Parents who have children or a child affected by the disease. It may be assumed that one or the other of them is the carrier and has amorphic genes.
- Persons whose family members suffer from thalassemia.
- Persons who have thalassemia and marry persons without amorphic genes, their children will have amorphic genes.
- Persons who have a special blood test to check for hemoglobin disorders.
Symptom
The patient will be anemic, the white part of the eyes becomes yellow together with yellow skin, enlarged liver and spleen, darkened skin, shapeless face bones, a flat nose, a thick skull, high bumps on the cheeks, wide and large jaws, protruding upper teeth, fragile bones, slow growth, small size of the body, a swollen belly, etc. In Thailand, there are about 60,000 patients suffering from this disease
The symptoms of thalassemia vary from having no symptoms at all to very severe causing death while the baby is still in the womb or shortly after delivery. The patient will have anemia and macrocytic anemia, and they always need to get more blood. Sometimes, they have frequent infections or colds depending on the type of thalassemia.
The potential carriers are as follows:
- A person who has relatives who have the disease.
- Parents who have children or a child affected by the disease. It may be assumed that one or the other of them is the carrier and has amorphic genes.
- Persons whose family members suffer from thalassemia.
- Persons who have thalassemia and marry persons without amorphic genes, their children will have amorphic genes.
- Persons who have a special blood test to check for hemoglobin disorders.
The chances for children to be affected by thalassemia:
- If both parents have suffered from thalassemia, every child will have thalassemia.
- If both parents have amorphic genes, for each pregnancy, 25% of the children will be affected by thalassemia, 25% of the children will not be affected, and 50% of the children will have amorphic genes.
- If either of the parents has amorphic genes, for each pregnancy, 50% of the children can be affected by thalassemia, and 50% of them may have amorphic genes.
- If one of the parents has thalassemia, and the other does not, for each pregnancy, every child will have amorphic genes or will be carriers.
- If either of the parents has thalassemia and the other has amorphic genes, for each pregnancy, the chance for children to have thalassemia will be 50%, and the chance for children to have amorphic genes will be 50%, so in this case, no children will be unaffected.
Treatment
1. Have the patients take one pill of folic vitamins a day.
2. Give the patients some more blood when they become anemic.
3. Cut out the spleen when the patients need blood frequently because the spleen will become enlarged resulting in a feeling of fullness in the stomach which causes the patient to consume less food.
4. Do not take any medication for blood supplement.
5. The patients with severe anemia and large amounts of iron must get more blood, but they may have to get an injection to remove the iron.
Transplantation of the bone marrow
Transplanting original marrow cells in Thailand was successful, and so was transplanting the bone marrow for several children. The principle is to transplant the bone marrow from siblings (even different sexes) and to have medical checks and assistance.
CHANGING THE GENES IS CURRENTLY BEING RESEARCHED USING THE LATEST MEDICAL TECHNOLOGY
How to prevent thalassemia
- Training medical personnel to gain knowledge and the capability to diagnose or advise the methods for treatment.
- Informing the public about thalassemia to find out who is at risk and give them suggestions how to take care of themselves.
- Giving advice for couples proposing marriage to have a blood test to find out whether they are at risk from thalassemia and give them suggestions concerning the chance to be affected from the disease including giving appropriate suggestions for persons who already have thalassemia.
2.3 DIABETES
Diabetes is a condition of having a high blood sugar level caused by a lack of insulin or having less insulin due to insulin resistance. This results in a high blood sugar level for a long period of time, which can cause other diseases affecting other organs such as the eyes, kidneys, and nervous systems.
How is insulin essential to the body?
Insulin is one of the most important hormones in the body. Its duty is to bring glucose to the tissues within the body to be metabolized for energy. If the body lacks insulin, sugar cannot be used causing a high blood sugar level resulting in the symptoms of diabetes; the metabolism in the body cannot use carbohydrates for energy anymore and begins to use fat and protein.
Diabetes symptoms
The sugar level of normal people is between 100 mg. and 110 mg. before breakfast and two hours after having breakfast, the sugar level is between 100 mg. to 140 mg. To diagnose diabetes, we must have the blood tested.
Symptoms frequently found are:
1. frequent urination: normal people do not urinate at night or just only once. When the sugar level in the blood is more than 180 mg especially at night sugar will be driven out of the tissues by osmosis. This condition makes us urinate more frequently and we lose more water as well. Sometimes we can see ants gather around eating the sugar in the urine.
2. Patients are often thirsty because of losing water from urinating.
3. Patients are always hungry, but they lose weight because the body cannot use sugar for the energy resulting in using fat and protein from the muscles instead.
4. Patients feel easily fatigued and lose weight because the body cannot use sugar so it will digest fat and protein out of the body. Also, weight loss from losing water from urination.
5. Other symptoms include itching, infection, wounds slowly healing, etc.
- itching around skin infected from fungus especially around a women’s vagina which results from dry infected skin.
- not able to see clearly and frequently changing eyeglasses because of short eyesight, cataracts, caused by the high blood sugar level.
- feeling of numbness, no feeling in the arms or legs, lack of sexual desire owing to a high blood sugar level for a long period of time.
- Easily getting foot injuries because the patients cannot feel anything when they are injured.
2.4 ALLERGY
Allergies are caused from an active reaction to allergen. Normally people do not have this reaction. Some common allergens include dust, fungus in the air and food, animals’ fur, flowers, etc. The substance that causes this active reaction is called an “allergen”.
Allergies can be categorized into 4 types according to the organs affected:
- infected nasal cavity which is sensitive to the weather
- infected eyes
- asthma
- infected skin
Allergies are common in Thailand. According to statistics, about 15 to 45% of people suffer from nasal allergies. In other words, almost half the population suffers from this allergy. Allergies can be inherited by genes just like others such as bald heads, height, eye color, etc. However, although the parents are allergic to something, the children may not have any symptoms of allergy.
Usually, if either of the parents suffers from allergy, the children may have a 26% chance of having the allergy, but if both parents have an allergy, their children have a greater chance of suffering from the allergy especially nasal allergies.
Allergies may completely disappear when the patients become adults, but most of them cannot be cured; the symptoms usually occur only occasionally.
CONCLUSION
Genetic diseases are an important problem which can result in the patients’ death. There is no treatment to make them disappear; the only thing that can be done is to relieve the symptoms, or to control the symptoms. Therefore, having a physical checkup and a screen for genetic diseases and getting advice is essential for a couple who are getting married. This can protect them from the diseases before getting pregnant.