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| What Is Thalassaemia ? |
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Thalassaemia is a genetic blood disorder that impairs the oxygen carrying capacity of haemoglobin in the blood. A Thalassaemia minor is a healthy carrier of the Thalassaemia gene and may not exhibit any outward symptoms.
Children who inherit the Thalassaemia gene from both parents may sufer from Thalassaemia major and have acute anaemia, enlarged livers and spleens, deformed bones and other growth disorders. The only means of survival for such children is through regular blood tranfusions for the rest of their lives, the cost of which, along with other medical expenses can run into lakhs. There are almost 10,000 Thalassaemia majors born in India every year!!
3.5% of our population carries the gene for Thalassaemia. It is by far the most common affiction in India. There is a one in thirty chance that you are a carrier and not even know it. Ignorance about Thalassaemia is helping it to multiply faster than it is possible to contain its spread. |
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| Get yourself tested today !!! |
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| Can we prevent Thalassaemia Major ? |
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| Yes we can!!! If you are a healthy carrier of |
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If your spouse is not a carrier; there is absolutely no chance that your children will have Thalassaemia major, though they may have the Thalassaemia trait like you. |
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If your spouse is a carrier; there is a 25% chance that the child may have Thalassaemia major. This is true for every pregnancy that you may have. |
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| What Is Prenatal Diagnosis for Thalassaemia ? |
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When both parents are carriers, a test called Chorion Villus Sampling or CVS for short can be done on the foetus to ensure it is healthy. This can be conducted as early as the tenth week to guarantee that there is no danger to the child or mother. If the test is positive, the foetus can be aborted safely.
Remember there is a 75% chance of a healthy child in each pregnancy. However, you will need to take the prenatal test during each pregnancy. This is not an option!! |
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| Are you a carrier ? |
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| To find out if you are a carrier, all that is required is a simple blood test that will take less than 10 minutes of your time. At WE CARE TRUST. we offer this service at a subsidised rate on the fully computerised Variant machine. |
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| A Word on Prenatal Diagnosis |
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| Thalassaemia is an inherited genetic blood disorder there are two forms of Thalassaemia. |
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Thalassaemia Minor/Trait/Carrier |
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Thalassaemia Major |
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| In Thalassaemia minor one out of two genes, responsible for production of Haemoglobin in red blood cells, is defective. Other gene is normal. Thalassaemia minors are therefore perfectly healthy;through they are slightly anaemic, they require no treatment. |
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| But if thalassaemia minor marries to a person who is also thalassaemia minor, the couple may give birth to a thalassaemia Major child. Or if he marries to a normal person, couple may give birth to thalassaemia minor child. |
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| In thalassaemia major both the genes responsible for production of Haemoglobin are defective, consequently red blood cells are not produced and thus necessitating for blood transfusions, two of three times a month as long as child lives. The only treatment is blood transfusion every 15-20 days throughout life. Repeated blood transfusion cause number of complications in the child. Overall the treatment is very traumatic and expensive. Though Thalassaemia major is incurable but it can be 100% prevented. |
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| The Thalassaemia Major Child is born only if both the parent is Thalassaemia Minor. |
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| It is therefore imperative to avoid marriage between two thalassaemia minors. However if they are already married or the marriage between two minor is unavoidable due to certain reasons, the only ray of hope is Prenatal Diagnosis (P.D) |
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This test was first developed in 1980,s for prenatal diagnosis. The best timings for CVS are between 9-12 weeks of pregnancy. An early test is better than a late test, because if foetus is affected the late termination will be more upsetting and painful.
P.D. is done on a foetus (unborn baby) during early pregnancy, to see if has inherited a particular baby will be either affected or UN affected, than only one can decide to terminate pregnancy.
In each pregnancy, couples at risk for thalassaemia have 3 out of 4 chances of a Normal child. Hence Prenatal diagnosis is advised in EVERY pregnancy.
If the results of prenatal diagnosis come as an unaffected foetus, patient can continue with the pregnancy. If the results are affected foetus, they are advised for the termination of the pregnancy, |
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| By Dr. Anupama Varma (M.D Pathologist) |
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| CHELATION THERAPY-DREAM COMES TRUE |
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| In Thalassaemia Major, the child is not able to produce its own blood, and has to be given blood transfusions, two three times per month. While the blood transfusion, Prolongs life but are not devoid of it’s On problems like AIDS and Iron overload mainly. |
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| The Iron content of transfused blood get accumulated in the vital organs of body, like heart, liver, kidney and endocrine organ, resulting in their failure and ultimately death |
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| For the last 4-5 decades, only the drugs used initially for transfusional chronic iron over load is Desferrioxamine (DFO) and has been considered as gold standard in the management of iron overload. Through it is very efficient in chelating the iron, the compliance is poor as it has to be given by subcutaneous infusion for 8-10 hrs a day for 5-6 days in week by injection. Other problem encountered is cost involved which is too prohibitive for the common man to use and hence it is being used by not more than 10-20% of our patients |
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| The Deferriprone or Kelfer (L1) was a breakthrough in iron chelation therapy as it was first orally effective chelating agent. India was the 1st country to introduce this drug and it has been widely used in our country as it is much cheaper, within the reach of many patients and can be given orally and hence compliance was very good. Several studies have confirmed the efficacy of this drug in reducing both Sr. ferritin & Tissue iron overload; however this drug has side effects of arthropathy, pain in the joint in 20-30% of cases and in occasional cases children developed life threatening complication like neutropenia and hence there was always an effort to find out a drug which is safer. |
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| Deferasirox (Desirox or Asunra) is a new chelating agent which has been introduction recently, can be given once daily as oral chelator for treatment of iron overload associated with repeated blood transfusion. It is also called as Exjade (ICL 670). |
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| Primary data has indicated that Deferasirox for one year is associated with improvement with myocardial iron overload (deposition of Iron in Heart) & labile plasma iron Dosage depends on the patient’s response, Sr. Ferritin level and goal of the therapy is to maintain and to reduce body iron level. |
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| The drug is available in the form of dispersible tablets and should be dispersed in water, orange juice, and apple juice) and are available in the form of 250-500 mg. This is an orally absorbed Iron Chelator and consumed as drink once daily preferably half an hour before meal, preferably at the same time each day. |
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| The patients With Thalassaemia major should begin chelation therapy once they had 10-20 transfusions or (100ml. /Kg) has been transfused or when ferritin levels have raise than 1000ug/I) |
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| In conclusion various studies done so far Exjade fulfills the criteria of near ideal chelator has least side effects and can be given orally. Thus a dream drug has become reality |
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| Extracts from Dr. Lokeshwar’s Articles on Iron Chelation Therapy |
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| Thalassaemia |
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| Thalassaemia is one of the commonmost inherited disorder in the world. Amongst the Indian population the carriers range between 3-15%. It is estimated that there are 30 million gene carriers in India. This condition is more prevalent in certain communities like Sindhis, Punjabis, Gujratis, Benngalis, Bhanushalis, Lohanas, Muslims. Thalassaemia is mainly of two types. Thalassaemia Major and Minor. |
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| Thalassaemia Minor |
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| Thalassaemia minor is a heterozygous condition in which the person carries the gene of Thalassaemia and can pass it to the next generation. This is also known as Thalassaemia trait or carrier. Persons with Thalassaemia minor are otherwise normal except that during stress situations like pregnancy their haemoglobin may drop. Illustrative Diagram of How the Disorder is transmitted Genetically. |
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| Thalassaemia Major |
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| Is a serious disease in which the affected child is unable to maintain normal hemoglobin level. If left untreated it limits the life span to 3-5 years. The present day treatment available for thalassaemia major is repeated blood transfusions and iron chelation therapy. Overall the treatment of thalassaemia major is very taxing, traumatic and expensive and is beyond the reach of most. |
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| I-Iow to prevent Thalassaemia? |
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| Thalassaemia is preventable but not curable. All married women should be screened either before pregnancy or during early pregnancy for Thalassaemia status. * If she is found to be Thalassaemia minor then the husband should also be screened. If both are Thalassaemia minor, antenatal diagnosis is advised between 9 and 11 weeks of pregnancy. In case the fetus is found to be affected by Thalassaemia major, MTP is advised and if the fetus is Thalassaemia minor or normal the pregnancy is allowed to continue |
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| Thalassaemia Intermedia - Current Concepts Dr. V P. Choudhary, MD, FIAP, FIMSA,
FIACM Professor of Heamatology, AIIMSN |
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| Definition |
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| Thalassaemia intermedia is a clinical state in which thalassaemic Children survive without blood transfusion, maintaining their hemoglobin between 6-9 g/dl. However, the hemoglobin level drops under stress and the children occasionally require blood. The disease is milder than thalassaemia. |
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| Genetic Aspects |
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| Genetically in thalassaemia intermedia, the beta chain synthesis is less impaired than in thalassaemia major. The imbalance between the.... And beta chains is less pronounced. The genetic defects in thalassaemia intermedia are variable. There is overlap between thalassaemia intermedia, thalassemia major and thalassaemia minor. This could be the result of reduction in a chain synthesis along with a more severe reduction in beta chain synthesis. |
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| Sign and Symptoms |
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| There is no clear cut distinction between thalassaemia major and thalassaemia intermedia. Thalassaemia intermedia presents with a wide spectrum of clinical features. In mild cases, growth and development of the child may be relatively normal, while the severe cases may present with a clinical picture similar to transfusion dependent beta thalassemia major |
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| Pallor and splenomegaly are prominent, as in thalassemia major. Growth and development often get affected if the anaemia persists for a long time and in the absence of blood transfusions. Many borderline patients with severe anaemia manage to survive without transfusions. Most of them present late in life (four to seven years or even later) and maintain their hemoglobin between 6-9 g/dl. They grow normally in height but are under weight. |
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| Puberty may be delayed by 2-3 years. Woman may need regular transfusions during pregnancy. The hemoglobin drops during stress such as pubertal growth, pregnancy, associated vitamin deficiency (B' Z and folic acid). In India, iron deficiency may become evident as it is widely prevalent. |
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| The decision to start regular transfusion in thalassemia intermedia is much more difficult than in thalassemia major. Patient who can lead a normal life and do not have other problems, should not be started on regular transfusions. Occasional transfusions are given when the haemoglobin falls below 7 g/dl, especially in presence of infections. All patients need regular monitoring for early detection of complications. |
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| Know all about Hepatitis B |
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| What is Hepatitis B? |
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| It is a serious liver disease caused by the Hepatitis B Virus (HBV). Jaundice is its most visible symptom. HBV damages liver tissue and can lead to cirrhosis of liver(scarring of liver tissue) or liver cancer. Once a person is infected, there is no sure cure. Besides, it spreads very easily. |
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| Is Hepatitis B a serious problem? |
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One in every 25 Indians is a carrier of Hepatitis B virus. |
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It is the fifth major cause of mortality in the most productive (15-45 years) age group in India. |
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1 % of all adult deaths in our country are due to HBV |
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About 60% of chronic liver disease and 80% of primary liver cancers are due to this disease. |
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| How does it spread? |
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| The main sources of infection are human blood and other body fluids like semen and saliva. |
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| You can get Hepatitis B in four ways |
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Almost anyone. Nobody is safe from this disease. However some people, due to their profession or family history, are more likely to be affected. Here are a few examples.
Doctors, nurses and other healthcare workers. Patients receiving frequent blood transfusions such as in hemophilia, thalassemia and patients on dialysis. Infants born to HBV carrier mothers Sex workers.
Homosexuals and heterosexuals with multiple partners. ·Alcoholics· Intravenous drug abusers (addicts). · People who play contact sports like football, hockey, wrestling and karate. People who undergo tattooing and acupuncture. |
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| Transfusion complications related to
white cell contamination of blood products |
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| White blood cells (or leucocytes) are one of the components of circulating blood. These cells have important roles to play in defending the body against disease. However, if a person receives another persons' (foreign) white blood cells, a number of problems can occur. Patients with blood disorders like Thalassamia or malignancies like leukaemia may require regular transfusion of red blood cells and / or platelets. |
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| These patients are referred to as chronically transfused patients. Unfortunately, despite the use of modern techniques to process blood components for transfusion, these products remain contaminated with foreign white blood cells. As these contaminating cells can have adverse effects on the patient, it is important to remove as many as possible from blood products that are to be transfused. Special filters to remove a high level of white cells from transfused platelets and red blood cells have been developed. These are known as Leucocyte Depleting Filters. |
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| Various transfusion associated complications observed in chronically transfused patients can be attributed to the transfusion of foreign white cells. |
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| The most frequent type of transfusion complication is a rise in the body temperature of 1° C or more and an increase in the pulse rate. With more severe reactions the patient may develop headaches, nausea, shivers, and respiratory distress. In some instances vigorous shaking (rigors) develops that may lead to the patient's transfusion being stopped and result in unnecessary blood wastage. |
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In some cases, the presence of foreign white blood cells in blood components can trigger the patients' immune system to produce special anti-bodies. These anti-bodies can lead to the above transfusion reactions and also a drop in the platelet counts.
In case of patients who have undergone Bone Marrow transplant, it can even lead to organ rejection. At times, the foreign white blood cells can cause suppression if the patient's immune system, leading to higher rates of infection. Certain viruses resides solely in white cells and can seriously affect bone marrow transplant patients. |
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| Removal of white blood cells by filtration is already an integral part of many patients' transfusion therapy. It is important to choose a filter that has been proven to be clinically effective through independent trials. |
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| New Hope for Thalassaemia Majors |
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| The miracle of birth and the lifeline between mother and child could be a lifesaver for those unfortunate children suffering from thalassaemia Major The blood collected from this lifeline has the capacity to continue as a lifesaver Donate your cord blood A lifeline before birth and beyond.. |
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| What is Cord Blood? |
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Years of medical research have led us to an amazing discovery, cord blood. Cord blood is what remains in the umbilical cord and placenta following birth, which is normally discarded. Collection of cord blood is pain-free, simple and non-invasive.
First used in transplant in 1988, umbilical cord is a rich source of stem cells, the building blocks of blood and immune cells, which can be used to treat a variety of life-threatening diseases. In just a few years, hundreds of acutely ill patients have received treatment because of this medical advancement. |
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| How is cord blood donated? |
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First, a pregnant mother gives her consent to donate her baby's umbilical cord blood to the Reliance Life Sciences cord blood donor program. After the birth of the child, blood is drawn from the portion of the umbilical cord, which is still attached to the placenta. The blood is collected in a specially designed bag provided by Reliance. As in all other donor programs, your confidentiality is assured. |
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| Is there any harm to either mother or child as a result of these procedures? |
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No. Since the baby is delivered before any blood is collected, there is no chance of your baby getting an infection from the collection process. This blood is derived. From the placenta and hence the newborn is not deprived of any blood. Donating your baby's cord blood will provide New Hope for children with thalassaemia, cancer and other diseases.
The stem cells from a single placenta are sufficient to rebuild the blood and immune system of a child with thalassaemia, whose own red blood cells are incapable of carrying oxygen. |
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| Recognizing the advantages of cord blood, Reliance Life Science has been established providing Relicord: stem cell enriched umbilical cord blood for transplantation, storage facilities for Sibling Donor programs and mobilizing peripheral blood cells programs for aggressive chemo and radiotherapy. |
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| Know all about your blood |
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| Thalassaemia is inherited blood disorder, so let us today describes blood and its functions. |
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| What is blood? |
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| Blood is a part of your body. It is pumped around by your heart, and circulates in the blood vessels that distribute it through your whole body. The blood vessels are arteries, capillaries and veins. When your heart pumps blood out, it flows first into the big arteries, and then into smaller arteries to reach the capillaries. |
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| The capillaries are so small that you can only see them through a microscope, but they are very important because while the blood is flowing through them, it gives out the air and food it is carrying to the tissues of the body, and picks up wastes to take them away. After this the blood flows into the veins, which finally carry it, back to your heart. |
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| What is blood made of ? |
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| Blood is made up of a light yellow liquid, called plasma, and of three types of "cells". In fact, your whole body is made up of tiny building blocks called cells, far too small to see. In most tissues they are stuck together, but in the blood they float round freely in the plasma. There are 3 types of blood cells: red cells, white cells and platelets. |
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| What does blood do? |
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| Each part of the blood has its own special function. The plasma carries water, salts and materials such as food, hormones and drugs to your tissues, and carries away waste, to be got rid of through your lungs (in your breath) and through your kidneys, in your urine. Your white blood cells defend your body against infections. Your platelets stop you from losing blood if you hurt yourself. They stick together and block up your blood vessels when they get damaged, so they stop any more blood escaping. |
| You have many more red cells than white blood cells. The red blood cells are full of hemoglobin, which is red, and this is what makes your blood look red. Hemoglobin picks up oxygen from the air in your lungs, and carries it round to your tissues, where it lets it go. To live, your tissues need to breath, so they need oxygen. New red blood cells are being made all the time in your bone marrow. They only live about 120 days. Then are destroyed in your spleen. |
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| What is anemia? |
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If you have too few red blood cells, or there is too little hemoglobin in them, you have anemia." This simply means a shortage of blood. If the anemia is mild, it does not harm and you may not even notice it: but if it is severe, you are ill, because your tissues don't have enough oxygen.
The commonest form of anemia is "iron deficiency anemia. This can happen if you don't have enough iron in your diet. It can be cured by taking iron medicine. Thalassaemia is quite different from iron deficiency anemia. It is an inherited anemia. It cannot be cured by taking any medicines. |
| If you have too few red blood cells, or there is too little hemoglobin in them, you have anemia." This simply means a shortage of blood. If the anemia is mild, it does not harm and you may not even notice it: but if it is severe, you are ill, because your tissues don't have enough oxygen. |
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| Save a Life Bank your Blood Insure for your future |
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