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Thalassemia and Hemoglobinopathies

Thalassemia is an inherited autosomal recessive blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains causes the formation of abnormal hemoglobin molecules, and this in turn causes the anemia which is the characteristic presenting symptom of the thalassemias.

Thalassemia is not synonymous with hemoglobinopathies, like sickle-cell disease. Thalassemias result in under production of globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Either or both of these conditions may cause anemia.

The disease is particularly prevalent among Mediterranean peoples, and this geographical association was responsible for its naming: Thalassa is Greek for the sea, Haima is Greek for blood.

There is no cure for thalassemias, and the best treatment available today consists of frequent blood transfusions (every two to three weeks) with iron chelation therapy (e.g. deferoxamine) administered subcutaneously. Bone marrow transplants (hematopoietic stem cell transplantations) and cord blood transplantation with pre-operative myeloablation are potentially curative, though the latter requires further investigation.

Treatment and complications
Anyone with thalassemia should consult a properly qualified hematologist.

Thalassemias may co-exist with other deficiencies such as folic acid (or folate, a B-complex vitamin) and iron deficiency (only in Thalassemia Minor).



	Allergy
	Autism
	Cancer of Cervix
	Carpal Tunnel Syndrome (CTS)
	Colon Cancer
	Common Cold
	Coronary heart disease (CHD)
	Dengue Haemorrhagic Fever (DHF)
	Diabetes
	Electrodiagnosis
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	Pediatric

What Is Diabetes?
The Balance of Glucose and Insulin:
Diabetes is a disorder that affects the way your body uses food for energy. Normally, the sugar you take in is digested and broken down to a simple sugar, known as glucose. The glucose then circulates in your blood where it waits to enter cells to be used as fuel. Insulin, a hormone produced by the pancreas, helps move the glucose into cells. A healthy pancreas adjusts the amount of insulin based on the level of glucose. But, if you have diabetes, this process breaks down, and blood sugar levels become too high.

There are two main types of full-blown diabetes. People with Type 1 diabetes are completely unable to produce insulin. People with Type 2 diabetes can produce insulin, but their cells don't respond to it. In either case, the glucose can't move into the cells and blood glucose levels can become high. Over time, these high glucose levels can cause serious complications.
Pre-Diabetes:
Pre-diabetes means that the cells in your body are becoming resistant to insulin or your pancreas is not producing as much insulin as required. Your blood glucose levels are higher than normal, but not high enough to be called diabetes. This is also known as "impaired fasting glucose" or "impaired glucose tolerance". A diagnosis of pre-diabetes is a warning sign that diabetes will develop later. The good news: You can prevent the development of Type 2 diabetes by losing weight, making changes in your diet and exercising.

Top Warning Signs of Diabetes

Losing Weight Without Trying: 
This symptom is more noticeable with Type 1 diabetes. In Type 1, the pancreas stops making insulin, possibly due to a viral attack on pancreas cells or because an autoimmune response makes the body attack the insulin producing cells. The body desperately looks for an energy source because the cells aren't getting glucose. It starts to break down muscle tissue and fat for energy. Type 2 happens gradually with increasing insulin resistance so weight loss is not as noticeable.

Weakness and Fatigue: 
It's that bad boy glucose again. Glucose from the food we eat travels into the bloodstream where insulin is supposed to help it transition into the cells of our body. The cells use it to produce the energy we need to live. When the insulin isn't there or if the cells don't react to it anymore, then the glucose stays outside the cells in the bloodstream. The cells become energy starved and you feel tired and run down.

Tingling or Numbness in Your Hands, Legs or Feet: 
This symptom is called neuropathy. It occurs gradually over time as consistently high glucose in the blood damages the nervous system, particularly in the extremities. Type 2 diabetes is a gradual onset, and people are often not aware that they have it. Therefore, blood sugar might have been high for more than a few years before a diagnosis is made. Nerve damage can creep up without our knowledge. Neuropathy can very often improve when tighter blood glucose control is achieved.

Other Signs and Symptoms That Can Occur: 
Blurred vision, skin that is dry or itchy, frequent infections or cuts and bruises that take a long time to heal are also signs that something is amiss. Again, when these signs are associated with diabetes, they are the result of high glucose levels in the body. If you notice any of the above signs, schedule an appointment with your doctor. He or she will be able to tell you if you have reason to be concerned about a diagnosis of diabetes.

Treatments for Diabetes
In type 1 diabetes, the body does not produce insulin, which is needed to take sugar (glucose) from the blood to the cells. You can learn more about these conditions and how to prevent them in this section. You will also find helpful information about insulin, diagnostic tests and tips on what to expect from your health care provider.

Hypoglycemia
Hypoglycemia, or low blood glucose, can happen even during those times when you're doing all you can to manage your diabetes.

Hyperglycemia
Hyperglycemia is a major cause of many of the complications that happen to people who have diabetes. For this reason, it's important to know what hyperglycemia is, what its symptoms are, and how to treat it.

Ketoacidosis
Ketoacidosis is a serious condition where the body has dangerously high levels of ketones -- or acids that build up in the blood -- and it can lead to diabetic coma (passing out for a long time) or even death.

Managing Your Blood Glucose
Keeping your blood glucose as close to normal as possible helps you feel better and reduces the risk of long-term complications of diabetes. Learn about checking your blood glucose, tight diabetes control, and an A1C test.

About Insulin and other drugs
In people with type 1 diabetes, the pancreas no longer makes insulin. The beta cells have been destroyed. They need insulin shots to use glucose from meals. Learn more about insulin and other drugs.

Insulin Pumps
Learn how you can use an insulin pump to help manage your diabetes.

Transplantation
Diabetes sometimes damages kidneys so badly that they no longer work. When kidneys fail, one option is a kidney transplant. There are also pancreas transplants, as well as islet cell transplants.

Related Conditions
Learn more about celiac disease, hemochromatosis and frozen shoulder, and how they relate to type 1 diabetes, in this section.

Cancer of Cervix 
The cervix is the part of the uterus connected to the upper vagina. It is the structure that dilates during childbirth to allow the baby to traverse the birth canal. There are two major types of cancer that develop from the cervix. Squamous cell cancers arise from the squamous epithelium that covers the visible part of the cervix. Adenocarcinomas arise from the glandular lining of the endocervical canal. About 85% of cervical cancers are squamous cell cancers and the remainder adenocarcinomas. Each of these major types has several subtypes that may require special treatment; otherwise they are all managed similarly. Squamous cell cancers are unique because there is a well established progression through premalignant changes before a cancer develops. These premalignant changes are easy to detect by a simple screening test called the Pap test.

SYMPTOMS
There may be no symptoms of a very early cervical cancer, but by the time it is large enough to detect visually it is usually symptomatic with abnormal bleeding. Often this abnormal bleeding occurs after sexual intercourse. Cancers must make new blood vessels as they grow. These new blood vessels are often abnormal and break easily which is why bleeding is a sign of cancer. The cancer also outgrows some of its blood supply, so portions of it are deficient in oxygen. This causes some of the cells to die and for the tissue to become infected. In the cervix this causes a watery or foul discharge that will be noticeable and resistant to most treatments for the usual vaginal infections.

As the cancer increases in size it usually grows laterally toward the pelvic wall. The tubes from the kidneys (ureters) that bring urine to the bladder pass through this area and they are easily obstructed. If that happens to both of the ureters, then this will result in renal failure, coma and death. If the cancer grows into the pelvic wall it will press on the nerves that go to the leg and cause unremitting leg pain. These are symptoms of an advanced cancer. Premalignant changes have no symptoms and are usually not noticeable on visual examination.

Cervical cancers usually do not spread early. They tend to be slow growing and cause most of their problems in the pelvis. Although distant metastases occur they are usually late events. Cervical cancers can spread by way of the lymphatic system. The lymphatic vessels drain from the cervix to clusters of lymph glands along the pelvic wall. The lymphatics follow the large blood vessels so the route of drainage is upward along the pelvic wall, then along the midline of the backbone and then to the chest. If the pelvic lymph nodes on one side of the pelvis become obstructed with cancer then that will cause swelling in the leg on that side. This is another sign of advanced cancer.

TREATMENT
In general, cancers of the cervix are treated with radiation. The major exceptions are for those that are stage I and some that are stage IV. Stage IA cancers that invade less than 3mm deep can sometimes be treated by simple hysterectomy or even in special cases by cone biopsy. All other Stage I cancers are treated either by radical surgery or radical radiation. Some stage IIA cancers can also be considered for surgery. Otherwise, all stage II, III and IV cancers are treated with radiation. Occasionally ultra-radical surgery is done on some stage IVA cancers. Surgery for stage IB and some IIA cancers requires a radical hysterectomy and removal of the pelvic lymph nodes. Radical hysterectomy means that the cervix is removed by staying as far away from it and the cancer as possible. A regular or simple hysterectomy removes the cervix by staying as close to it as possible.

Cancer surgery requires that the cancer be removed with as good a margin of uninvolved tissue as can safely be taken. The radical hysterectomy technique removes all the supporting ligaments to the cervix which means that the dissection is very close to the bladder and to the rectum. The ureters have to be dissected out and the tissue around them removed. A radical hysterectomy with removal of the lymph nodes takes about 4 hours to perform. A simple hysterectomy takes only about 1-2 hours. The ovaries are not a part of the problem with cervical cancer and can be left in place. If after surgery the pathology indicates that there are positive lymph nodes or that the surgical margins are close, then pelvic irradiation with or without chemotherapy may be advised.

Ultraradical pelvic surgery for advanced or recurrent cancer means that all the pelvic organs are removed. The uterus and cervix, vagina, bladder and rectum are removed. Sometimes a vagina can be reconstructed. If the rectum can be reattached then there will be no need for a colostomy. Sometimes a continent urinary reservoir can be constructed. Otherwise a bag will have to be placed for the urine to drain through an ostomy in the abdominal wall. This ultra-radical surgery is done if there is an extensive cancer involving the bladder or rectum, but without spread beyond these structures. It is also done for cancers that recur after pelvic radiation if they are confined to the pelvis.

Radiation therapy usually requires a treatment each day, five days a week, for about five weeks. Each treatment takes only several minutes. This is called external or teletherapy. The entire pelvic area is irradiated by an x-ray beam usually generated by a linear accelerator. Everything in the pelvis is irradiated, bladder, rectum, large intestine, small intestine, bone and skin. Following this treatment, a radioactive source is placed inside the cervix and vagina and left in place several hours or several days. This is called an implant, radium implant, intracavitary implant or any of several other names. A more accurate term is brachytherapy which means slow therapy.

Often when cancer of the cervix is being treated with radiation, chemotherapy is also given to increase the effects of the radiation. Otherwise, chemotherapy is not used as initial treatment for cancer of the cervix. There are some investigational studies in which chemotherapy is given first and then either surgery or radiation performed.

Complications from treatment with surgery are related to anesthesia and injury to other organs such as the bladder and ureters. There is also the risk associated with blood transfusions and infection. These complications usually occur early and are remediable. Radiation complications can occur years later and are difficult to fix.