Thalassemias

Thalassemias are a group of blood disorders that affect the way the body makes hemoglobin, a protein found in red blood cells that is responsible for carrying oxygen throughout the body.

The body contains more red blood cells than any other type of cell, and each has a life span of about 4 months. Each day, the body produces new red blood cells to replace those that die or are lost from the body.

With a thalassemia, the red blood cells are destroyed at a faster rate, leading to anemia, a condition that can cause fatigue and other complications.

Thalassemias are inherited conditions — they're carried in the genes and passed on from parents to children. People who are carriers of a thalassemia gene show no thalassemia symptoms and might not know they're carriers. If both parents are carriers, they can pass the disease to their kids. Thalassemias are not contagious.

While there are many different types of thalassemias, the main two are:
Alpha thalassemia: when the body has a problem producing alpha globin
Beta thalassemia: when the body has a problem producing beta globin

When the gene that controls the production of either of these proteins is missing or mutated, it results in that type of thalassemia.
About Alpha Thalassemia

Alpha thalassemia occurs when the gene that controls the making of alpha globins is absent or defective. It can be mild to severe and is most commonly found in people of African, Middle Eastern, Chinese, Southeast Asian, and, occasionally, Mediterranean descent.

Some children with alpha thalassemia have no symptoms and may require no treatment. Others with more severe cases need regular blood transfusions to treat anemia and other symptoms.

A child can only get alpha thalassemia by inheriting it from his or her parents. Genes are "building blocks" that play an important role in determining physical traits and many other things about us.

Humans are made up of trillions of cells that form the structure of our bodies and carry out specialized jobs like taking nutrients from food and turning them into energy. Red blood cells, which contain hemoglobin, deliver oxygen to all parts of the body.

All cells have a nucleus at their center, which is kind of like the brain or "command post" of the cell. The nucleus directs the cell, telling it to grow, mature, divide, or die. The nucleus contains DNA (deoxyribonucleic acid), a long, spiral-shaped molecule that stores the genes that determine hair color, eye color, whether or not a person is right- or left-handed, and many more traits. DNA, along with genes and the information they contain, is passed down from parents to their children during reproduction.

Each cell has many DNA molecules, but because cells are very small and DNA molecules are long, the DNA is packaged very tightly in each cell. These packages of DNA are called chromosomes, and each cell has 46 of them. Each package is arranged into 23 pairs — with one of each pair coming from the mother and one from the father. When a child has alpha thalassemia, there is a mutation in chromosome 16.

Alpha globin is made on chromosome 16. So, if any gene that tells chromosome 16 to produce alpha globin is missing or mutated, less alpha globin is made. This affects hemoglobin and decreases the ability of red blood cells to transport oxygen around the body.

Types of Alpha Thalassemia

Alpha globin is made by four genes and one or more can be mutated or missing, so there are four kinds of alpha thalassemia:
One missing or abnormal gene makes a child a silent alpha thalassemia carrier. Silent alpha thalassemia carriers have no signs or symptoms of the disease, but are able to pass thalassemia on to their children.
Two missing or mutated genes is a condition called alpha thalassemia minor or having alpha thalassemia trait. Children with this condition may have red blood cells that are smaller than normal (microcytosis) and sometimes very slight anemia.

 People with alpha thalassemia minor usually don't have any symptoms at all, but can pass thalassemia on to their children. The two abnormal genes can be on the same chromosome (called the cis position) or one on each chromosome (called the trans position). If two genes on the same chromosome are affected, the person can pass along a two-gene defect to his or her child. This situation is much more common in people of Asian descent.
Three missing or mutated genes is called hemoglobin H disease. Signs and symptoms will be moderate to severe.
Four missing or mutated genes is a condition known as alpha thalassemia major or hydrops fetalis. This almost always leads to a fetus dying before delivery or a newborn baby dying shortly after birth. However if this disease is suspected because of a history in the family, it can be diagnosed prenatally. Sometimes, if treatment is initiated before the baby is even born, the baby can survive.
Complications

In addition to anemia and hydrops fetalis, severe cases of alpha thalasemia and hemoglobin H disease can lead to serious complications, especially if untreated. Complications of alpha thalassemia include:
Excess iron. When children have alpha thalassemia, they can end up with too much iron in their bodies, either from the disease itself or from getting repeated blood transfusions. Excess iron can cause damage to the heart, liver, and endocrine system.
Bone deformities and broken bones. Alpha thalassemia can cause bone marrow to expand, making bones wider, thinner, and more brittle. This makes bones more likely to break and can lead to abnormal bone structure, particularly in the bones of the face and skull.
Enlarged spleen. The spleen helps fight off infections and filters out unwanted materials, such as dead or damaged blood cells, from the body. Alpha thalassemia can cause red blood cells to die off at a faster rate, making the spleen work harder, which makes it grow larger. A large spleen can make anemia worse and may need to be removed if it gets too big.
Infections. Children with alpha thalassemia have an increased risk of infection, especially if they've had their spleens removed.
Slower growth rates. The anemia resulting from alpha thalassemia can cause children to grow more slowly and also can lead to delayed puberty.

Thalassemia and Heredity

Thalassemia is actually a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia. Hemoglobin is a protein in red blood cells that carries oxygen and nutrients to cells in the body. About 100,000 babies worldwide are born with severe forms of thalassemia each year. Thalassemia occurs most frequently in people of Italian, Greek, Middle Eastern, Southern Asian and African Ancestry.

The two main types of thalassemia are called "alpha" and "beta," depending on which part of an oxygen-carrying protein in the red blood cells is lacking. Both types of thalassemia are inherited in the same manner. The disease is passed to children by parents who carry the mutated thalassemia gene. A child who inherits one mutated gene is a carrier, which is sometimes called "thalassemia trait." Most carriers lead completely normal, healthy lives.

Alpha  Thalassemia

A child who inherits two thalassemia trait genes - one from each parent - will have the disease. A child of two carriers has a 25 percent chance of receiving two trait genes and developing the disease, and a 50 percent chance of being a thalassemia trait carrier.

Most individuals with alpha thalassemia have milder forms of the disease, with varying degrees of anemia. The most severe form of alpha thalassemia, which affects mainly individuals of Southeast Asian, Chinese and Filipino ancestry, results in fetal or newborn death.

A child who inherits two copies of the mutated gene for beta thalassemia will have beta thalassemia disease. The child can have a mild form of the disease, known as thalassemia intermedia, which causes milder anemia that rarely requires transfusions.

Beta  Thalassemia

Thalassemia Major: A Serious Disorder

The more severe form of the disease is thalassemia major, also called Cooley's Anemia. It is a serious disease that requires regular blood transfusions and extensive medical care.

Those with thalassemia major usually show symptoms within the first two years of life. They become pale and listless and have poor appetites. They grow slowly and often develop jaundice. Without treatment, the spleen, liver and heart soon become greatly enlarged. Bones become thin and brittle. Heart failure and infection are the leading causes of death among children with untreated thalassemia major.

The use of frequent blood transfusions and antibiotics has improved the outlook for children with thalassemia major. Frequent transfusions keep their hemoglobin levels near normal and prevent many of the complications of the disease. But repeated blood transfusions lead to iron overload - a buildup of iron in the body - that can damage the heart, liver and other organs. Drugs known as "iron chelators" can help rid the body of excess iron, preventing or delaying problems related to iron overload.

Thalassemia has been cured using bone marrow transplants. However, this treatment is possible only for a small minority of patients who have a suitable bone marrow donor. The transplant procedure itself is still risky and can result in death.

Gene Therapy Offers Hope for a Cure

Scientists are working to develop a gene therapy that may offer a cure for thalassemia. Such a treatment might involve inserting a normal beta globin gene (the gene that is abnormal in this disease) into the patient's stem cells, the immature bone marrow cells that are the precursors of all other cells in the blood.

Another form of gene therapy could involve using drugs or other methods to reactivate the patient's genes that produce fetal hemoglobin - the form of hemoglobin found in fetuses and newborns. Scientists hope that spurring production of fetal hemoglobin will compensate for the patient's deficiency of adult hemoglobin.

What Is Thalassemia (Alpha Thalassemia)

 

Alpha thalassemia refers to a group of disorders characterized by inactivation of alpha globin genes. This results in a relative increase in nonfunctional beta globin or gamma globin tetramers and subsequent cell damage. Normally, there are four alpha genes. Absence or non-function of three alpha genes results in hemoglobin H disease, and the loss of all four alpha genes usually results in intrauterine death.

The alpha thalassemias are caused by a decrease in production of alpha globin chains due to a deletion or mutation of one or more of the four alpha globin genes located on chromosome 16. Alpha gene mapping can be obtained to determine the specific mutation. The alpha thalassemias can be generally categorized as: Silent Carrier, Alpha Thalassemia Trait, Hemoglobin H disease, Hemoglobin H-Constant Spring, and Alpha Thalassemia major. Frequently, the diagnosis of alpha thalassemia trait in a parent is discovered after the birth of an affected child.

 The Silent Carrier status is characterized by three functional genes that code for the production of alpha globins (-a/aa). Outside the newborn period, it is not possible to make this diagnosis by conventional methods. There is overlap between the red blood cell indices of these individuals and normals, although the MCV may be slightly lower. The silent carrier will experience no health problems in his/her lifetime. This carrier state is diagnosed by deduction when a 'normal' individual has a child with Hgb H disease or with microcytic anemia consistent with alpha thalassemia trait. An unusual case of the silent carrier state is the individual who carries the Hemoglobin Constant Spring mutation [(acsa/aa) or (aacs/aa)]. This is an elongated a-globin due to a termination codon mutation. Individuals who have this mutation have normal red blood cell indices, but can have children who have Hgb H-Constant Spring disease if the other parent has alpha thalassemia trait (--/aa). Generally, children with Hgb H-Constant Spring are more affected clinically than children who have classic Hgb H disease. Two Constant Spring carriers can also pass on their genes to have a child with Homozygous Constant Spring, a condition that has similar clinical implications as Hemoglobin H disease.

Alpha thalassemia trait is characterized by two functional genes that code for the production of alpha globins [(-a/-a) or (--/aa)]. The two genes can either occur on the same chromosome (cis-type) or on each of the pair (trans-type). Cis-type a-thalassemia trait tends to be found in individuals of Asian descent, while trans-type tends to run in individuals of African descent. Cis-type can be co-inherited with another cis-type or hemoglobin H disease to result in alpha thalassemia major, or hydrops fetalis. Individuals who have alpha thalassemia trait are identified by microcytosis, erythrocytosis, hypochromia, and mild anemia. The diagnosis is made by a combination of family studies and the ruling out of both iron deficiency anemia and beta thalassemia trait. In the neonatal period, when hemoglobin Bart's (g4) is present, the diagnosis can be strongly suspected. In children, there are no markers such as Hgb A2 and Hgb F to make the diagnosis. (One exception is the case where both of the deletions occur on the same chromosome and zeta [z] globin is expressed in carriers. This is most common in Southeast Asians.) The diagnosis is one of exclusion. The clinician should be satisfied with the presumed diagnosis if the above criteria are met. During pregnancy, the microcytic anemia can be mistaken for anemia of pregnancy.

 The individual with a thalassemia trait will experience no significant health problems except a possible slight anemia which cannot be treated with iron.

Hemoglobin H disease is characterized by one functional gene that codes for the production of alpha globins (--/-a). Hgb H disease should be considered in the case of a neonate in whom all of the red blood cells are very hypochromic. These neonates have a high percentage of hemoglobin Bart's on the their newborn screening results. In older children, this hemoglobinopathy is characterized by moderate anemia with a hemoglobin in the 8 to 10 gm/dL range, hypochromia, microcytosis, red cell fragmentation, and a fast migrating hemoglobin (Hgb H) on electrophoresis.

 Hemoglobin H does not function as a normal hemoglobin and has a high oxygen affinity (holds onto oxygen longer making it unavaible for use by the body), so the measured hemoglobin in these children is misleading. Individuals who have Hgb H generally have a persistent stable state of anemia, which may be accentuated by increased hemolysis during viral infections and by exposure to oxidant medications, chemicals and foods such as sulfa drugs, benzene, and fava beans (similar to individuals who have G6PD deficiency). As the red cells mature they loose their ability to withstand oxidant stress and Hgb H precipitates, leading to hemolysis. Therapy for individuals who have Hgb H disease includes folate, avoidance of oxidant drugs and foods, genetic counseling education and frequent medical care. Uncommon occurrences in a child with Hgb H would be severe anemia, skin ulceration, and splenomegaly requiring splenectomy. Unlike individuals who have beta thalassemia, hemosiderosis is rare in Hgb H disease.

 Children with Hemoglobin H-Constant Spring  have a more severe course than children who have Hgb H. They have a more severe anemia, with a steady state hemoglobin ranging between 7 and 8 gm/dl. They more frequently have splenomegaly and severe anemia with febrile illnesses and viral infections, often requiring transfusion. If anemia is chronically severe and the child has splenomegaly, a splenectomy may be performed. If splenectomy is anticipated, the complication of severe post-splenectomy thrombocytosis with hypercoagulability can occur, leading to thrombosis of the splenic vein or hepatic veins. This complication has also been reported as recurrent pulmonary emboli and clotting diathesis. At Children's Hospital Oakland, children who are scheduled to have surgery are treated pre-surgically with low molecular weight heparin, followed by low dose aspirin, continued indefinitely.

 The most severe form of alpha thalassemia is Alpha Thalassemia Major or hydrops fetalis, characterized by a deletion of all four genes that code for alpha globins . This diagnosis is frequently made in the last months of pregnancy when fetal ultrasound indicates a hydropic fetus. The mother frequently exhibits toxemia and can develop severe postpartum hemorrhage. These infants are usually stillborn. There can be other congenital anomalies, though none are pathognomonic for alpha thalassemia major. Since alpha globins are required for production of fetal and adult hemoglobin, the fetus suffers from signifiant in utero hypoxia. The only hemoglobins found in these infants are: Hgb Portland (d2g 2), Hgb H (b), and Hgb Bart's (g4), and no Hgb A or A2. These babies can have other complications associated with hydrops, such as heart failure and pulmonary edema.

If the diagnosis is made early, intrauterine transfusions can be performed. There are reports of survival and chronic transfusion in these infants; CHO cares for one alpha thalassemia major baby with chronic transfusion therapy. Undoubtedly, more of these infants could be saved if the diagnosis is anticipated by prenatal diagnosis and treatment provided.

Homeopathic Remedies For White Spots On Face

According to homeopathic philosophy leucoderma or vitiligo is not just a skin disease but it is the external manifestation of the internal derangement of the body. Thus, the treatment in homeopathy is aimed at curing this internal problem because only this would provide permanent relief from white patches. The patient is thus evaluated from different angles – physical, emotional, mental and familial. Also important is life situation prevailing when the problem started.

 There are 33 remedies in homeopathy for leucoderma or vitiligo or white patches. Arsenic sulph falvus, Arsenic album, Baryta muriaticium and Baryta carbonicium are few of them. A professional homeopath chooses the right one for a particular patient by carefully assessing his or her symptoms. This is very important because only the well-selected remedy would cure the patient. Also it is a chronic disease and may take considerable time to cure even with the best selected homeopathic remedy. The patient should keep this in mind and should be ready to cooperate with their homeopath.

 Leucoderma or vitiligo is only curable in homeopathy while other treatments including sun exposure, ultraviolet radiation and external applications only provide temporary relief. Also allopathic treatment is associated with side effects like liver damage, skin allergy, nausea, cataract and other eye problems. The well-selected homeopathic remedies are without any side effects.

 Many a times vitiligo or lecuderma is associated with stress, thyroid dysfunction, pernicious anemia, Addison's disease, alopacia areata (bald patches) and intestinal disorders. With homeopathic treatment the above conditions are also dealt with concurrently thus providing complete and permanent recovery.


   Some remedies for best treatment


Kali Carbonicum

  Potassium carbonate undergoes the process of potentization to evolve into a powerful deep acting homeopathic remedy called Kali Carb. Kali carb is a polycrest drug i.e. having effects on multiple organs and systems in the body. It has a broad sphere of action and is useful for a wide range of diseases.

 Kali Carbonicum positively influences lungs, digestive system, heart, liver, kidney, female reproductive system, skin, etc. Kali Carbonicum does wonders in cases of asthma, bronchitis, tuberculosis, pneumonia, hydrothorax, etc. It is one of the commonly used medicines for vitiligo, warts, eczema, urticaria, hair loss, trigeminal neuralgia, sciatica and low backache, hypothyroidism, heavy menstrual bleeding, etc. It is also useful for complaints of digestive system like acidity, piles, jaundice, gastritis, etc. On the mental sphere, it tackles anxiety states very efficiently and is used for the treatment of the effects of stress on the body.

Silicea (Silica)

  It is one of the splendid acts of homeopathy that substances labeled as inert can also be used efficiently to treat a large variety of disorders. Silica is the example of one such substance, which is chemically inert in its natural form, but after undergoing the process of potentization it gets transformed into a wonderful, deep acting remedy. Silica is in true sense called as polycrest remedy as it has a broad spectrum of action, useful for a wide range of disease processes. In fact this remedy has helped Homeopaths world over to treat so-called surgical conditions gently without requiring knife.

 Silica positively influences bones and joints, mucous membranes, skin, cellular tissue, nerves, glands, lungs, digestive system, etc. Silica is one of the frequently used medicines for complaints of vitiligo, eczema, lichen planus, herpes, urticaria, asthmatic bronchitis, pneumonia, tuberculosis, styes and chalazion, trigeminal neuralgia, complaints of nails, tonsillitis, etc. Patients requiring silica usually have tendency of easy suppuration of skin injuries. Silica positively influences nutrition as well and hence its one of the prominent remedies used for rickets in children.

Arsenicum Sulfuratum Flavum

  This is one of the specific remedies used for the treatment of vitiligo in homeopathy. It has discoloration of the skin in blotches that are pale or white in color. It is also a good remedy for eczematous lesions which are moist and have intense itching with corrosive discharge. Pyoderma and urticaria also find a solution through this drug.
Its sphere of action also extends to catarrhal affections and asthmatic states. A deep acting drug which has been known to give good results in Leucoderma (vitiligo).

Syphillinum

  Syphilinum belongs to a group of homeopathic drugs called as Nosodes which are prepared from disease products or diseased tissues. The remedy prescribed does not contain the original drug substance in the material form but it contains only the dynamic curative powers of that substance. This is achieved through the process of potentization in homeopathy. Syphillinum is a deep acting, polycrest remedy affecting multiple systems of the body. It positively influences the mind, sensorium, skin, gastrointestinal tract, genito-urinary system, nerves, bones, etc. It is a very helpful remedy to combat hereditary syphilitic tendencies in patients.
Syphillinum is frequently used in the homeopathic treatment of vitiligo, recurrent abscesses, osteomyelitis, trigeminal neuralgia, alcohol dependence, rheumatic complaints, etc. It's a useful drug to combat diseases that are destructive in nature and are deep-seated.

Nitricum acidum

  As the name suggests, this drug is prepared from nitric acid. It must be remembered that the remedy does not contain the original drug substance in its material form but it contains only the dynamic powers of the drug which are released after it undergoes the process of potentization.
Nitricum acidum is a deep acting, constitutional remedy which positively influences the gastrointestinal tract, nerves, glands, skin, bones, etc.
Its one of the commonly used drugs for vitiligo, warts, ulcers, fissures, gastritis, hemorrhoids, bony and rheumatic affections, malignancy, cachexia, etc.

Carcinosin

  It's the beauty of the homeopathic system of medicine to be able to use not only plants, animal products and minerals but also certain disease products and diseased tissue for curing various ailments of patients. These are called as Nosodes. Here is a remedy prepared from the material derived from the carcinoma of the breast. It must be borne in mind that the actual medicine does not contain any part of the original substance in the material form. Only the dynamic powers of the original drug substance are present in the final medicine.

 Carcinosin is a deep acting constitutional drug having many indications and a very broad spectrum of action. It is useful for a wide range of disease processes, all of them cannot be described here, but a few of them are discussed here. It positively influences mind, lungs, heart, eyes, skin, bones and joints, nerves, etc. It is one of the commonly used medicines for diseases like vitiligo, urticaria, lichen planus, styes and chalazion, hair loss, asthma, insomnia, trigeminal neuralgia, etc. Homeopathy believes that the genetic predisposition or inherent susceptibility is usually the root cause of a wide range of diseases and Carcinosin in one such remedy which is used to combat these genetic tendencies effectively.

Hydrocotyle Asiatica
  This is a remedy that is prepared from the plant called Indian Pennywort. The tincture from the whole fresh plant is used for the preparation of this remedy. After undergoing the process of Potentization, the curative powers of this remedy are brought forth.
This is one of the very good remedies for vitiligo. It is supposed to stimulate the process of pigmentation. It is also beneficial in other skin problems such as psoriasis, lupus, leprosy, acne and other disorders of the skin in which there is much exfoliation of the skin.
This medicine is often prescribed in combination with a constitutional medicine or other deeper acting medicine to get the best effect.

Natrum Muriaticum

  Natrum Muriaticum is an interesting example of homeopathic medicine prepared from a common food substance, the common salt, sodium chloride. As a rule, the common salt undergoes a special procedure called potentization, whereby its inner healing power is activated to make it available for healing. Constitutionally, this medicine has a broad spectrum of action, and is useful for a wide range of disease processes affecting the skin, gastrointestinal organs, nose, lungs, kidney, metabolism, muscles, head, hormonal system, etc. It is one of the commonly used remedies for hair loss, fissures-in-ano, urticaria, migraine, eczema, lichen planus, vitiligo, asthma, etc. Natrum muriaticum is frequently prescribed in cases of vitiligo and is one of the very good remedies for the same.

Phosphorus

  This is a wonderful remedy prepared by the potentization of inorganic phosphorus. After undergoing the process of potentization, the latent healing powers of this drug are brought to surface and it proves to be a wonderful remedy capable of curing a wide range of diseases.
Phosphorus predominantly acts on the skin, gastrointestinal tract, hepato-biliary system, blood, kidneys, bones, lungs, nervous tissue, etc. It is frequently used in the homeopathic treatment of vitiligo, hairloss, nephrotic syndrome, hepatitis, cirrhosis, hemorrhagic tendencies, respiratory infections, osteomyelitis, paralytic symptoms, etc.
Few of its common skin symptoms are: Loss of pigmentation in spots, white discoloration of the skin. It is also used for skin disorders where the patient has much itching and burning of the skin; in urticaria, psoriasis. It is also a good drug for hemorrhagic spots occurring on the skin at various places.

Thuja Occidentalis

  This is a drug prepared from a plant Thuja Occidentalis commonly known as Arbor Vitae. This is another deep acting remedy with a wide sphere of action. It has profound action on skin, genito-urinary organs, joints, nervous system, glands, kidneys, blood, etc. Good for inveterate skin troubles and chronic stubborn skin conditions like vitiligo. Tendency to have unhealthy skin in general. It is a good drug not only for physical complaints but also for affection of the mind. For example it can be very useful in psychotic states, anxiety disorders, depression, etc. Genetic, auto-immune and hormonal factors associated with vitiligo may call for the use of this remedy. In general good for chronic diseases which have been neglected for a long time and have therefore grown deeper into the system. These patients are better in dry weather and worse from humid climate and damp conditions. Some doses of Thuja occidentalis helps enhance the speed of recovery in many cases of vitiligo.