Dr. Prashant Saurav
BHMS(pune); Md (hom)
Reg. no. 29769
Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen.The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cellsThalassemia is inherited, meaning that at least one of your parents must be a carrier of the disease. It’s caused by either a genetic mutation or a deletion of certain key gene fragments.Thalassemia minor is a less serious form of the disorder. There are two main forms of thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected.
There are three main types of thalassemia (and four subtypes):
• beta thalassemia, which includes the subtypes major and intermedia
• alpha thalassemia, which include the subtypes hemoglobin H and hydrops fetalis
• thalassemia minor
All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.
Beta thalassemia occurs when your body can’t produce beta globin. Two genes, one from each parent, are inherited to make beta globin. This type of thalassemia comes in two serious subtypes: thalassemia major (Cooley’s anemia) and thalassemia intermedia.
Thalassemia major is the most severe form of beta thalassemia. It develops when beta globin genes are missing. The symptoms of thalassemia major generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other signs and symptoms include:
• frequent infections
• a poor appetite
• failure to thrive
• jaundice, which is a yellowing of the skin or the whites of the eyes
• enlarged organs
This form of thalassemia is usually so severe that it requires regular blood transfusions.
Thalassemia intermedia is a less severe form. It develops because of alterations in both beta globin genes. People with thalassemia intermedia don’t need blood transfusions.
Alpha thalassemia occurs when the body can’t make alpha globin. In order to make alpha globin, you need to have four genes, two from each parent.
This type of thalassemia also has two serious types: hemoglobin H disease and hydrops fetalis.
Hemoglobin H develops as when a person is missing three alpha globin genes or experiences changes in these genes. This disease can lead to bone issues. The cheeks, forehead, and jaw may all overgrow. Additionally, hemoglobin H disease can cause:
• an extremely enlarged spleen
Hydrops fetalis is an extremely severe form of thalassemia that occurs before birth. Most individuals with this condition are either stillborn or die shortly after being born. This condition develops when all four alpha globin genes are altered or missing.
People with thalassemia minor don’t usually have any symptoms. If they do, it’s likely to be minor anemia. The condition is classified as either alpha or beta thalassemia minor. In alpha minor cases, two genes are missing. In beta minor, one gene is missing.
The lack of visible symptoms can make thalassemia minor difficult to detect. It’s important to get tested if one of your parents or a relative has some form of the disease.
Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.
If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.
If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.
According to the Centers for Disease Control and Prevention (CDC), thalassemia is most common in people from Asia, the Middle East, Africa, and Mediterranean countries such as Greece and Turkey.
In most states, thalassemia is detected during newborn screening. Therefore, patients are assessed before becoming symptomatic.
If a patient is not diagnosed at newborn screening symptoms may include:
• Pale or jaundice pallor
• Shortness of breath
• Pulmonary hypertension
• Poor growth
• Bone changes
If thalassemia is left untreated then the following may occur:
• Enlarged liver, spleen, and heart.
• Thin and brittle bones.
• Tumor masses of extramedullary erythropoietic tissue are a common complication of the nontransfused thalassemia patient.
• Severe anemia.
• Congestive heart failure.
• Premature death.
Prior to consideration of transfusion therapy, it is critical to confirm the patient’s diagnosis. In addition to complete blood count (CBC), hemoglobin electrophoresis is the first diagnostic test. Fractions of hemoglobin A, A2, F, H, E, and other variants are measured. Hemoglobin analysis by hemoglobin electrophoresis or high performance liquid chromatography is used. Mutations may overlap on the screening test, resulting in incorrect diagnosis or a false negative. Therefore, genetic analysis for both betathalassemia and alpha-thalassemia mutations are necessary. In addition, parents and siblings should be screened. Occasionally (up to 20 percent of the time), only a single mutation will be found that is indicative of thalassemia trait. Some such cases result from an autosomal dominant form of thalassemia and others from inheriting a mutation that is not detected by the probes utilized in the DNA testing. Alpha-gene triplication is a common co-factor that may convert a thalassemia trait to a disease or worsen a benign mutation. Testing for co-mutations needs to be requested from the DNA laboratory—otherwise, it will not be performed.
Patients with thalassemia intermedia may have exaggerated anemia due to temporary nutritional deficiencies or infectious complications. It is important to complete a detailed medical history concerning factors that may temporarily lower hemoglobin, including viral illness, marrow-suppressing medication, or exposure to environmental factors such as lead. Nutritional deficiencies in folic acid or iron may exaggerate anemia. Correcting these deficiencies may raise the hemoglobin level enough to obviate the need for transfusion.* Therefore, laboratory screening of patients is necessary to rule out other causes of anemia.
* Measurements should be taken of the G6PD level, serum ferritin, total iron-binding capacity, serum iron, and red cell folate. A brief therapeutic trial of iron (6 mg/kg/day for four to eight weeks) and folic acid (1 mg/day) are indicated if significant laboratory deficiencies are found.
Newborn screening is a public health program designed to screen infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period. Newborn screening is recognized nationally as an essential preventive health care measure and all States in the nation and the District of Columbia have established programs. The State of California began its Newborn Screening program in 1966 with the testing for phenylketonuria (PKU). In 1990, screening for thalassemia major, E-beta thalassemia, and sickle cell disease was added to the State’s existing program. In 1999, the Program implemented screening for hemoglobin H and hemoglobin H - Constant Spring disease.
Babies are tested prior to leaving the hospital, by collecting a few drops of blood from the newborn's heel. The sample is sent to one of eight regional laboratories that contract with the State for testing. The laboratories enter demographic data and test results on terminals linked to the Genetic Disease Screening Program central computer in Richmond. This computer is programmed to detect and minimize data entry errors.
Positive test results are immediately telephoned to a follow-up coordinator at one of the Newborn Screening Area Service Centers throughout the State. The coordinator contacts the newborn's physician to arrange for repeat testing. If repeat testing determines that the baby has a disorder, the coordinator will supply the latest clinical information on diagnosis and treatment and assist with referrals to special care clinics such as Children’s Hospital Research Center Oakland.
CONVENTIONAL TREATMENT OF THALASSEMIA:
• Blood transfusionDisadvantage:frequent episodes of red blood cell transfusions can cause an overload of iron in the circulating blood which can damage the heart and the liver. Desferal is the medication given to treat an iron overload. It is an ‘iron chelator’.
Chelating agents combine with the excess iron in the body and help in eliminating them from circulating blood. They thus prevent the toxic effects of iron overload which are:
Decreased secretion of the sex hormonesDiabetes mellitusUnder activity of the thyroid glandsUnder activity of the parathyroid and other glands.
• Stem cell transplantation/ bone marrow transplantation for severe thalassemia it is not always successful as mnay times children refuse donar bone marrow• Genetic counseling• Iron supplements what is synthetic or artifiscial is not natural not reliable in long run in these casesDiet / management for Thalassemia• Diet adequate calcium and vitamin D help but not stoping breakdown of haemoglobin alone• Eat a healthy and balanced nutritious diet in these cases wheat grass juice is good• Protect yourself from infection; wash hands on frequent intervals and avoid being in touch with sick people.•
Homeopathy addresses the root cause and offers medication which are help eventually reduce the need for frequent blood transfusion. Homeopathic medicines also help to improve immune status, which in turn also controls frequent attacks of respiratory infections. Role of homeopathic treatment is supplementary in case of Thalassemia..More often than disease or any other visible disease is accompanied by a diseased state of mind e.g. lack of confidence, timidity, anxietis, fears, depression etc. Mind and body are a part of one indivisible unit. The way we behave, our temprament, emotional disturbances in life etc have a bearing on the physical being and leads to various ailments. A homeopathic remedy is selected considering the emotional state of the patient, the probable causative factors ( physical or mental), general state of body and all the diseased symptoms of the body. By rasing the immunity of the body same medicine is capable of eradicating various diseases present in the body at a time.Best thing is there is absolutely no side effect after treatment that why most of educated people prefer homoeopathy
There are following remedies which are helpful in the treatment of thalassemia symptoms:
Carcinosin, Sepia, Belladonna, Calcaria Carb, Sulphur, Tuberculinum, Silicea, Abis Nig, Antim Crude, Baptesia, Carbolic Acid, Chin Ars, Ferrum Met, Ipecauc, Ignatia, Lycopodium, Nux Vomica, Pulsatilla and many other medicines.
Name : yashraj
Address: bhagwanpur patedha, vaishali, bihar
Chief complaint: k/c/o thalassemia
He is having weakness, difficulty in breathing mainly in evening. Also he is very much irritable and lazy all the complaints mainly aggravated in evening.
No disease of significance was detected in past
Mother : healthy
Irritable in evening
Want to be carried
Laziness in evening
Anger easily when anybody annoyed him
Muttering sleep during
Appetite increased with weakness
Thirst : normal
Craving: sweets, chocolate
Urine : normal
Sleep : muttering sleep during
Thermal : ambithermal
Anemia- it is characterized by-
Decrease Production of Red blood cells,
Increase destruction of Red blood cells
Decrease hemoglobin and packed cell volume, Excess loss of Blood from the Body oxygen-carrying capacity is insufficient
Causes by- According to Type Cause are difference
Types of Anemia-
â€¢ Hemorrhagic Anemia...