Thalassemia Disorder?

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. Thalassemia caused by either a genetic mutation or a deletion of certain key gene fragments.

If both of parents are carriers of thalassemia, anyone have a greater chance of inheriting a more serious form of the disease.

If only one parents is a carrier for thalassemia, anyone may develop a form of the disease known as thalassemia minor. If this occurs, anyone probably won’t have symptoms, but anyone will be a carrier of the disease. Some people with thalassemia minor do develop minorsymptoms.

There are major types of thalassemia which are

Alpha thalassemia

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: haemoglobin H disease and hydrops fatalism.

Haemoglobin 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, haemoglobin H disease can cause:

Jaundice

An extremely enlarged spleen

Malnourishment

Beta thalassemia

Beta thalassemia occurs when 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 anaemia 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.

Thalassemia minor.

People with thalassemia minor don’t usually have any symptoms. If they do, it’s likely to be minor anaemia. 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 disorder results in excessive destruction of red blood cells, which leads to anaemia. Anaemia is a condition in which your body doesn’t have enough normal, healthy red blood cells.

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 symptoms of thalassemia-

a) Bone deformities, especially in the face

b) Dark urine

c) Delayed growth and development

d) Excessive tiredness and fatigue

e) Yellow or pale skin

Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up later in childhood or adolescence.

What are the different types of thalassemia?

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 haemoglobin H and hydrops fatalism

Thalassemia minor

All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.

Some of the treatments of Thalassemia are –

Blood transfusions

Bone marrow transplant

Medications and supplements

Possible surgery to remove the spleen or gallbladder

If anyone is receiving a blood transfusion, he /she may also need chelation therapy. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body.

World Asthma Day

World Asthma Day is a event celebrated all over the world by the people to increase the awareness among public worldwide about the precautions and prevention about asthma. World Asthma Day is annually organized on international level by the GINA (Global Initiative for Asthma) in order to increase the asthma awareness all around the world. It is celebrated on annual basis at 1^st Tuesday of the May month. World Asthma Day celebration was first started celebrating in the year 1998 by the GINA (Global Initiative for Asthma).

Family members and the persons having asthma are encouraged for the written asthma action plan through their healthcare provider to fulfill the specific needs of the asthmatic patients such as accurate medications to get prevented from the airway inflammations and environmental causes of asthma like dust mites and tobacco smoke.

Objective of the world Asthma day

On World Asthma day there are organised many activity for increase awareness of asthma disease.

1)    Maximize the number of people without asthma and minimize the number of people with asthma to get proper control.

2)    Decrease the death rate due to asthma.

3)    Try to enroll maximum of the asthma patients to ensure that all patients are diagnosed and getting treatment.

4)    National Asthma Programme was started in 2010 by asthma society improve the asthma care.

5)    Try to identify asthma patients for accurate treatment of primary or secondary level based on the standard guidelines.

6)    Try to reduce an emergency visits to hospital because of the asthma and number of days spent by the asthmatic patients in the hospital.

Asthma is a disease which affects the airways that carry air to and from the lungs. People suffering from asthma have swollen or inflamed airways. The inflammation causes the airways to be narrower which causes less air to pass through them into and from the lungs. This causes acute difficulties in breathing. The inflammation also causes the airways to be extremely sensitive to irritations and infections.

Causes of asthma

b)       Allergens – Asthma can be triggered by exposure to allergens like pollens, animal fur, dust mites, irritants in the air like smoke and odour.

c)       Physical Activity – Vigorous physical activity can also asthma.

d)       Respiratory Tract Infections – Infection in the respiratory tract is one of the most common causes of asthma.

e)       Emotional Excitement – Excessive display of emotion like crying, laughing or shouting can also trigger asthma.

Symptoms of Asthma

a)       Coughing during night that can range from mild to severe and could be chronic or dry.

b)       Difficulty in breathing or breathing through the mouth, rapid breathing or frequent breathing infections are common symptoms of asthma.

c)       There may be a feeling of tightness in the chest.

d)       You may also hear a whistling sound while breathing.

Diagnose asthma

There are no specific tests to diagnose asthma. However, the doctor will try to ascertain and diagnose the disease through the symptoms such as -

• Whether you have the common symptoms of asthma.
• When the symptoms happen and their occurrence rate.
• Whether you have noticed any source, which triggers your symptoms.

Treatment and Management of Asthma

There is no cure for asthma, but there are medications, which help in reducing the symptoms of asthma. Asthma can also be controlled by learning to avoid the sources, which may trigger it. Your doctor will give you medication depending on your condition and may also give you instructions for using them. The main treatments are:

a)       Short-acting reliever inhalers – It helps in controlling symptoms for a short period of time and to soothe the breathing tubes.

b)       Preventative inhalers – Preventive inhalers are used to reduce the inflammation in the breathing tubes and to stop symptoms of asthma.

c)       Combination of inhalers and long-acting reliever inhalers – It is used every day to relax the breathing tubes and stop the symptoms for a longer period.

d)       Steroid injections or oral medications – These are used in acute cases to relieve the symptoms and ease the pain and also allow the patient to breathe normally.

e)       Spirometry - Spirometry is needed to establish a diagnosis of asthma. It’s a device for measuring timed expired and inspired volumes, and hence indicates how quickly and effectively the lungs can be emptied and filled. It is basically used to diagnose airflow obstruction in patients with respiratory symptoms but is not used to screen for airflow obstruction in people without respiratory symptoms.