Thalassemia is a genetic (which is passed from parents to children through genes) blood disorder. People with Thalassemia disease are not able to make enough hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body. When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly.

Symptoms

The symptoms depend on the type of thalassemia:

Thalassemia Minor: Thalassemia minor usually doesn t cause any symptoms. If it does, it causes minor anemia.
Beta-thalassemia: Beta-thalassemia comes in two serious types, which are thalassemia major, or Cooley s anemia, and thalassemia intermedia. 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:
fussiness
paleness
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.

Alpha-thalassemia: Alpha-thalassemia also has two serious types, which are hemoglobin H disease and hydrops fetalis. Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all overgrow. Hemoglobin H disease can cause:
jaundice, which is a yellowing of the skin or the whites of the eyes
an extremely enlarged spleen
malnourishment
Hydrops fetalis is an extremely severe form of thalassemia. It occurs before birth. Most individuals with this condition are either stillborn or die shortly after being born.

Thalassemia - Symptoms Based on Types of Thalassemia 

A healthy kidney produces a hormone known as the erythropoietin. The latter assists the bone marrow to produce an adequate amount of RBC that carries oxygen to every nook and corner of the body. A damaged kidney results in less RBC production, thereby, creating a condition known as anemia. The hemoglobin count in the blood reduces significantly in this condition.

Anemia is characterized by shortness of breath, weakness and tiredness. It can affect sleep and a loss of appetite. A patient suffering from anemia reports of frequent headaches and a faster heart rate. These symptoms also surface when a person suffers from chronic kidney diseases (CKD). The condition gets worse as the disease progresses.

Treating anemia:
A patient suffering from anemia should be treated on time as there are many pitfalls of a lower hemoglobin level. The treatment will give instant relief from other symptoms that might have arrived with CKD. Doctors frequently prescribe Erythropoiesis Stimulating Agent (ESA) for patients suffering from CKD and suffering from anemia due to the shortage of erythropoietin. ESAs can be injected through an injection or intravenously. These injections stimulate the bone marrow to produce more RBCs. However, studies have revealed that ESAs increase the chance of strokes, heart attacks and blood clots. Furthermore, they aggravate tumor growth and shorten life expectancy for cancer patients. People undergoing ESA treatment should have periodic check-ups to ensure that the hemoglobin count is normal and under control.

Iron
Iron count in the body has an important role in treating patients suffering from anemia and CKD. In case the level of iron is too low in the body, ESAs fail to improve the condition of an anemic patient. The ferritin count of a patient should be in the range of 100-800 mcg/L. One more test known as TSAT reveals the number of iron required to produce RBCs in the body. In case the iron count is less, doctors often suggest iron pills to bring the count to a more accepted level.

Other causes
There could be other reasons for anemia as well. A doctor might further investigate the level of B12 and folic acid present in the body. Even an inflammatory condition can lead to anemia. A decreased count of any of the above-mentioned ingredients can cause anemia to a patient suffering from EKD.

Food items necessary to improve the condition
A healthy diet helps in improving the condition of an anemic patient. Iron deficiency is best addressed by fish and beef. Food rich in vitamin C helps the body to absorb more iron in the body. Certain food items that block the entry of iron in the body include tea, milk, albumen (egg white) etc. Therefore, you should be strictly avoid these items from your diet.

Kidney Disease - How It Is Related With Anaemia?

What do we mean by the term Anemia?

It is described as a decrease in the total number of red blood cells, or hemoglobin in the blood, or a decreased oxygen-carrying capacity of blood.

How to know if an individual has Anemia?

An individual with anemia may show one or more of the following signs or symptoms:
Shortness of breath, chest pain, and headache are especially seen with exercise as the oxygen supply decreases
Difficulty in concentration which is mostly seen in children
Easy tiredness, fatigue, and loss of energy
Dizziness because of low blood volume leading to hypotension
Hair loss especially while combing, washing hair. Also, hair becomes brittle and dry due to anemiaInsomnia (lack of sleep)
Cramps in legs especially calf muscle 
Rapid heartbeat with exercise as the demand for oxygen increases during exercise, so your heart beats faster than usual
Craving for indigestible substances, such as pica, paper, mud, ice, dirt, etc.
Koilonychia (spoon-shaped nails or upward curvature of the nails)
Soreness and cracks at the corners of the mouth
Very heavy menstrual periods or irregular bleeding because of low hemoglobin count
Pale skin is especially seen over the palms of your hands and under your nail beds. Also, the conjunctiva looks pale
Anemia due to Deficiency of Vitamin B12 Dementia (loss of memory)
Tingling sensation in the hands or feet
Loss of the sense of touch
Difficulty in walking
Stiffness in the arms and legs
Delayed growth and development in children
Swelling of the hands and feet
Episodes of severe pain in the joints, abdomen, and limbs as the red blood cells obstruct capillaries
Anemia by Chronic Red Blood Cell Destruction/Hemolytic anemia

Jaundice (yellowish or greenish pigmentation of skin and sclera of the eyes)
Brown or red colored urine due to the destruction of red blood cells
Fever due to the destruction of red blood cells
Small bruises under the skin
Abdominal pain because of enlargement of the spleen and liver
Black stools due to the destruction of the red blood cells
Anemia Caused by Chronic Lead Poisoning
Level of lead in blood is higher than 50  g/dLA blue-black line is seen on the gums. It is also known as a lead line
Abdominal pain
Constipation
Vomiting
Investigations 

Complete blood count: This test will help an individual know the percentage of hemoglobin in blood as well as red blood cell count. Also, mean cell volume (MCV) is used to categorize anemia.
Serum Ferritin Test: Ferritin levels below 15 20 micrograms/L in a person confirms iron-deficiency anemia.
Total Iron-Binding Capacity: It measures the blood's capacity to bind iron with transferrin.

How Can Anaemia Be Diagnosed?

Did you know that Thalassemia is a common blood disorder in India, that?s passed through families (just the way it was passed to Abhishek Bachchan because megastar Amitabh Bachchan is a carrier). It is characterized by excessive destruction of red blood cells or genetic mutation, leading to anaemia. Today is World Thalassemia Day, lets understand about the disease.

Thalassemia can be classified into alpha and beta, depending on the globin genes that are affected.

1. Thalassemia Minor - Usually doesn?t have any symptoms, except for minor anaemia.

2. Beta Thalassemia - Has two serious types.

2.A) Thalassemia Major: This type usually happens before a child?s second birthday and requires regular blood transfusions. The condition is life-threatening. Symptoms include anaemia, fussiness, frequent infections, paleness of the skin, poor appetite, enlarged organs and jaundice.

2.B) Thalassemia Intermedia: It is a less severe form and doesn?t require blood transfusions. The symptoms include anemia, jaundice, extremely large spleen and malnourishment.

3. Alpha Thalassemia: Only in rare cases this severe form of Thalassemia may be present. Known as Hydrops Fetalis, this condition usually occurs before birth and children are either stillborn or die soon afterwards.

How to live with Thalassemia:

Take steps to be as healthy as possible. Follow a balanced diet eating plan as per the recommendation of your doctor. Take iron supplement only if prescribed. It is recommended that patients get themselves vaccinated whenever needed, especially if their spleen has been removed. Meanwhile, always be on a lookout for the signs of infections (such as fever) and lower your risk of infections. Thalassemia can spark fear, anxiety, depression and stress. That?s why, doctors recommend that patients receive adequate emotional support.

Treatment:

The treatments depend on the kind of Thalassemia an individual has. Usually, treatment procedures include blood transfusions, bone marrow transplants, removal of spleen or gallbladder specific medications and supplements.

If you have any more questions on this topic, click on consult privately to ask me.

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Read Dr. Jatin Soni's Health Tip on The Occasion of World Thalassemia Day

World Sickle Cell Day is observed each year on June 19th to raise the public awareness regarding this disease and its treatment methods. Sickle Cell disease is an inherited transmitted deformity/abnormality of haemoglobin. It is an inherited form of anaemia. This abnormality generates changes in the shape of red blood cells from round to crescent, which reduces the oxygen carrying capacity and slows down the flow of blood to various parts of the body. 

Generally, red blood vessels are round and flexible, passing easily through the blood vessels. The red blood cells become sticky and rigid in sickle cell anaemia. Sickle cells last 10 to 20 days, which causes anaemia because of the disorder of red blood cells, while healthy red blood cells could live up to 120 days.

Millions of people around the world are affected by Sickle Cell Anemia. There is no specific cure for this disease as Sickle cell anaemia is not contagious, it is hereditary. Sickle cell anaemia is named so for the reason that red blood cells are crescent-shaped or sickle-shaped, and anaemia signifies lack of blood. There is a difference between iron-deficiency anaemia and sickle cell anaemia.

Symptoms

Sickle Cell Disease (SCD) has many symptoms which includes: serious anemia, episodes of suffering, additionally a range of complications, heart failure, dizziness, chronic kidney disease (CKD), acute chest syndrome (ACS), chest pain, gallstones, pulmonary hypertension, immune deficiency, paralysis or stroke, splenomegaly, joint damage mainly in the hip joint, foot ulcers, delayed puberty, retinopathy, and endocrine disorders.

Diagnosis

Sickle Cell Disease is diagnosed by blood tests.

Treatment

Bone marrow transplant or stem cell transplant in patients usually below the age of sixteen is the only available cure for the disease.

Aim of the World Sickle Cell Day

The aim of the World Sickle Cell Day is to support and promote research for the patients in order to help them upgrade their overall quality of life to the maximum possible extent. It also aspires to increase awareness for sickle cell disease disorder in the general public so that they know how to deal with patients suffering from the disease. Moreover, the World Sickle Cell Day has the objective of raising awareness of the importance among generations of pre-marital screening to lessen the transmission of Sickle Cell Disease.

Target Groups for Awareness Programs

Though it is desirable that everybody knows about Sickle Cell Disease, the target groups for the awareness programs include health decision-makers, sickle cell anaemia sufferers and their families, health organizations and associations, people who are planning to get married, and the health workers including health educators, physicians, and nurses.

On the World Sickle Cell Day, different societies provide advocacy, information, and advice for raising awareness. They also provide educational and welfare grants, support services, annual children s holiday, home help, hospital visits, mentoring and befriending through holding talks, assisting into research and training, lobbying for better service provision, patient education seminars, and campaigning.

World Sickle Cell Day - What Should You Know?

Iron deficiency anemia is a type of anemia, which occurs due to deficiency of iron. Iron is the main component of hemoglobin. So, a decrease in the hemoglobin level results in iron deficiency anemia.
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What are the Signs and Symptoms of Iron Deficiency Anemia?

Signs and symptoms appear when anemia is moderate to severe. In the mild stage, iron deficiency anemia often goes unnoticed. The signs and symptoms of iron deficiency anemia are:

Extreme fatigue (weakness)
Pale skin and brittle nails
Reduced  appetite
Headache, dizziness, or lightheadedness
Cold hands and feet with tingling numbness
Chest pain, palpitations, or shortness of breath
Inflammation or soreness of the tongue
Unusual cravings for indigestible substances, such as ice, dirt, or starch. 
What are the Causes of Iron Deficiency Anemia? 

Inadequate iron intake: Your body gets iron from the food you eat. If you consume too little iron, then your body may become iron deficient. Hence, resulting in anemia.
Inability to absorb iron: Iron is absorbed into your bloodstream from the food in your small intestine. In conditions like an intestinal disorder, this absorption of iron is hampered which results in iron deficiency anemia. Also, when your small intestine is bypassed or removed surgically, absorption of iron is hampered.
Blood loss: Red blood cells in your blood contain iron, and if the blood loss is severe, you can end up having iron deficiency. Conditions, such as bleeding hemorrhoids, colorectal cancer, and heavy menstruation can result in iron deficiency anemia.
Pregnancy and lactation: During pregnancy and lactation period, the iron requirement of the mother is more, and when it is unfulfilled, she may end up having iron deficiency anemia. 
Which Group is at Risk? 

Vegetarians
Women
Infants and children 
Frequent blood donors
How is it Diagnosed?

Diagnosis is made with the help of: 

Patient s history  
Blood tests, such as CBC and serum ferritin
Some additional tests, such as colonoscopy, endoscopy, and sonography to diagnose the underlying cause
Treatment

Treating the underlying cause is the primary step. 

Severe cases: When the iron level is too low, blood transfusion and even intravenous iron is given
Mild to Moderate Cases: Iron and vitamin C supplements are given in mild and moderate cases of iron deficiency anemia.
Can you Prevent Iron Deficiency Anemia?

Yes. You can prevent iron deficiency anemia by including iron-rich foods in your diet, such as:

Dark green leafy vegetables, such as spinach, peas, and beans
Dry fruits, such as raisins and apricots
Red meat, pork and poultry, and seafoodIron-fortified cereals, bread, and pasta
Include vitamin C-rich foods in your diet to enhance iron absorption. Vitamin C is found in Grapefruit, oranges, strawberries, lemons, and melonsLeafy greens, broccoli, peppers, and tomatoes

Iron Deficiency - What Are The Possible Signs And Symptoms?

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