Introduction
Hemoglobinopathies are a series of genetically inherited diseases that manifest as abnormalities of hemoglobin. Some of them include sickle cell anemia, thalassemia and hemoglobin SC. The Beta and Alpha polypeptide chains that make up amino acids of hemoglobin molecules are altered in these conditions. Persons with hemoglobinopathies depend on proper nutrition for therapeutic purposes. Poor diet may worsen the condition especially after interventions such as blood transfusions.
Thalassemia
This is a hemoglobin genetic disorder in which the body fails to produce a particular globin chain. A patient may be deficient in alpha or beta chains. Since these genes occur in pairs, then a defect of one of them can lead to thalassemia. Usually, alpha thalassemia is the most serious one of the two, and leads to death in babies. Conversely, beta thalassemia may lead to severe conditions if the two genes in the beta pair are affected (Beta thalassemia major)
One cannot cure thalassemia, but one can manage the disease. Since the condition is inherited, it usually starts early and continues into one’s adulthood. Patients use blood transfusions as treatment alternatives especially those suffering from beta thalassemia major (Lynch, 2007). The disease is common among Asians, African and persons of Mediterranean descent.
Since blood transfusions are a common treatment alternative for thalassemia patients, these individuals may become susceptible to iron overloads. The transfused iron accumulates in the body and may impede the functioning of the heart and liver; thus leading to death. Patients may use an iron-chelator to absorb the excess iron.
Iron overload is one of the most significant causes of death among these kinds of patients as causes heart disease. Such individuals should avoid iron rich foods like broccoli, leafy vegetables, watermelons, raisins, prunes, fortified cereals, peanut butter, liver, beans and oysters.
Besides issues of iron overload, thalassemias patients are likely to require certain nutrients to meet their health needs. Persons with the disease tend to report low growth rates, poor development, bone health issues and low immunity. These comorbidities are brought about by iron overloads in the body. Additionally, deficiencies in essential minerals, water soluble, and fat soluble vitamins bring about low growth rates. Sometimes even average intake of nutrients does not guarantee circulation within the body.
Therefore, these patients require a high level of nutrient intake to minimize low absorption rates or the high loss of nutrients in their bodies. Nutritional therapies thus assist in boosting growth and development; vitamins and essential minerals are especially necessary (Fung, 2010). Some of the foods to consumer include milk, cheese, yoghurt, sardines and sunlight; these will provide the patient with vitamins and calcium.
G6PD
This is a disorder of the genes that arise from the absence of an enzyme known as glucose-6-Phospate dehydrogenase. This disease causes individuals to lose their red blood cells at a high rate. As a result, the person will have hemolytic anemia. Patients will only suffer from the ailment after experiencing certain triggers such as foods and drugs. This implies that they ought to be quite careful about their diet to avoid the disease’s symptoms.
Some of these symptoms include pale nails and skin, shortness of breath and even fevers, consistent exhaustion and jaundice. If the trigger is eliminated or the person stops consuming it, then the symptoms will fade. The disease has no cure and persists throughout one’s life. Patients can only manage the ailment by attempting to minimize oxidative stress. Since carbohydrates require the G6PD enzyme for oxidation, then lack of it will prevent oxidation of the nutrients (Weatherall, 1997).
It should be noted that oxidative stress occurs when the triggers enter the body. The disorder is passed to one’s offspring through the X chromosome. Consequently severity of the ailment in men is much higher than it is in women.
Since certain foods trigger oxidative stress, then one should familiarize oneself with these meals. Fava beans are considered some of the most dangerous foods for persons with the disorder. They possess proteins such as convincing and vicine which lead to hemolysis. Legumes of all types should be avoided such as black beans or ordinary beans.
Persons should also stay away from soy and soy products. This additive may be hidden in pizzas, chocolate, burgers or even ice cream. Peanuts and all other peanut based products should not be consumed. On top of the above, patients should avoid menthol in food, toothpaste or any other product they use. Certain carbohydrates may also be problematic, and they include, high fructose corn syrup, refined sugars as well as white flour.
Dried fruits and wines are also dangerous because they contain sulfites. Although some of these foods may be disguised in common dishes, the trick is to read all the ingredients in the pack. Once one of them is detected, then the patient should discard the food item. G6PD can be manageable through observation of nutritional discipline. Laxity on the patient’s part may become fatal.
Sickle Cell Anemia
This is a genetic blood disorder that causes abnormal hemoglobin in the body. The hemoglobin distorts red blood cells to sickle shapes thus making them prone to rupture or other disfigurements. As more cells rupture then fewer red blood cells remain to carry oxygen in the blood. The latter condition is known as hemolysis, and it leads to anemia.
In severe cases, the sickle-shaped red blood cells may block vessels within the body, and this may cause pain in organs and tissues. Sickle cell anemia is an autosomal recessive gene. In other words, it does not depend on the sex chromosome for transmission. Persons with the genes usually remain carriers when they have one gene, but will suffer from the disorder when both parents have the illness.
Symptoms arise from the inefficiency of the sickle-shaped red blood cells in carrying blood around tissues and organs. These tissues will become impaired and abnormal, as a result. Sometimes the symptoms may appear quite severe while in other scenarios, they may subside. Patients with sickle cell anemia are usually fatigued.
They may report periods of a high intensity of pain, and diminished levels at other times. Their hands and feet may swell and some could develop arthritis. Many are susceptible to bacterial infections, liver and spleen congestion, leg ulcers, eye damage, bone infarcts among others (Bonavetura. & Riggs, 1968).
Treatment of the ailment is done to deal with the various conditions that arise out of the disease. Additionally, it is done to minimize blockage that stems from the stacking of the sickle-shaped red blood cells. No treatment option can completely reverse the condition, so patients and family members need to be aware of this fact as they seek medical help. Blood transfusions may be done when hemoglobin levels have reached very low levels. Alternatively, bone marrow transplants may be done.
Sickle cell anemics have a wide range of preventive and lifestyle options that may include avoidance of intensive activities, high altitude areas and crowded areas. They may also go for vaccines against common infections like influenza, pneumonia and hepatitis B. With regard to nutrition, patients need to consume plenty of fluids to avoid dehydration. Their diets should possess adequate amounts of vitamins, fats, proteins, minerals and calories.
Mineral supplements as well as vitamin supplements should be added to the diet. Food rich in omega three such as fish can minimize the fragility of the red blood cells as well as their ability to form sickles. Also, one must increase the amount of calories in one’s food by eating meat, dairy products, white breads and other high-calorie foods.
Cures to hemoglobinopathies
Generally speaking, the disorders that lead to hemoglobinopathies arise from mutations of the genes, so they cannot be reversed. This means that most of the diseases can never really be cured; treatment only focuses on management of the associated illnesses (Clegg & Weatherall, 2001). Nonetheless certain conditions have treatments that target the disease such as Sickle cell anemia. A patient may take hydroxyurea or other similar medications designed to stimulate the bone marrow to yield more hemoglobin HbF; this must be the fetal type.
HbF is advantageous because it does not form sickle shapes owing to its lack of polymerization properties. On the other hand, the above drug can suppress functionality within the bone marrow. Alternatively, patients may go for bone marrow transplants that allow individuals to produce round shaped red blood cells. There are serious risks in the transplanting process as it can led to death.
For thalassemia, there are possibilities of a cure when bone marrow transplants occur. As a stated earlier, the risk in performing these procedures is high enough to impede its use. Healthy children have a higher chance of recovery. Most treatment options for the disease include blood transfusions, which only deal with the deficiency of the globin chain by replacing unhealthy blood with healthy blood. However, it will not address the root of the problem.
Some researchers are also working on possible cures in the form of gene therapy. They are trying to find a way of making the bone marrow produce fetal hemoglobin to minimize the dependence on external triggers such as medicine. Other scientists are looking into the insertion of beta chains into stem cells that eventually become erythrocytes. These findings are yet to be confirmed, but may alter patients’ lives. In the time being, most of them have to make lifestyle adjustments especially through their nutrition.
Conclusion
The report has examined various types of hemoglobinopathies: sickle cell anemia, G6PD and thalassemia. Most of these diseases are inherited, so it is difficult to reverse the condition. This explains why management of the diseases through nutrition is imperative. Nutritional therapies focus on avoidance of dangerous nutrients that may either trigger the symptoms or lead to adverse conditions like heart failure. Alternatively nutrition assists patients in minimizing some of the deficiencies in their bodies.
Works Cited
Bonavetura, J. & Riggs, A. (1968). Hemoglobin Kansas. Biological Chemistry Journal, 243(5), 980-991.
Clegg, J. & Weatherall, D. (2001). Inherited hemoglobin disorders: An increasing global health problem. Bull World Health Organ., 79(8), 704-712.
Fung, E. (2010). Nutritional deficiencies in patients with thalassemia. Annals of The New York Academy of Sciences, 1202, 188-196.
Lynch, S. (2007). Influence of infection, thalassemia and nutritional status in iron absorption. International Journal for Vitamin and Nutrition Research, 77(3), 217-223.
Weatherall, D. (1997). ABC of clinical haematology: The Hereditary Anemias. British Medical Journal, 314, 492-496.