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Overview

Thalassemia Beta globin gene sequencing Test

Thalassemia Beta globin gene sequencing Test

If we want to identify most common beta-thalassemia mutations (comprising beta zero thalassemias and beta plus) and the haemoglobin variants then we should use thalassemia-beta-globin-gene-sequencing. Dominant beta-thalassemia and hyper unstable haemoglobin variants as well as other haemoglobin variants (cannot be identified by protein methods) are identified by it. Thalassemia-Beta-Globin-Gene-Sequencing cannot detect some haemoglobin disorders such as crossover events and large deletional mutations. The interpretation of its result is done with the context of RBC indices and protein studies.

Thalassemia-Beta-Globin-Gene-Sequencing requires some sort of preparations. These preparations are discussed in the following manner.
• Thalassemia-Beta-Globin-Gene-Sequencing needs DNA sample. We should not touch the sample derived from the body of the patient.
• We should keep that sample in clean and hygienic conditions.
• We should ensure the fact that the lab where DNA is extracted from that sample functions effectively.

The utility of thalassemia-beta-gene-sequencing is at par. This utility can be discussed in the following manner.
• Beta thalassemia major or intermedia can be diagnosed by it.
• Specific beta thalassemia mutation can be identified by it
• Chronic haemolytic anaemia of unknown etiology can be evaluated by it.
• With left-shifted p50 oxygen dissociation results, the hereditary erythrocytosis can be evaluated by it.
• The disorder of beta haemoglobin (based on family history) is taken into consideration as a concern by following the method of preconception screening in it.

In the procedure of thalassemia-beta-globin-gene-sequencing, first of all, DNA sample is prepared. For preparing DNA sample, the sample is taken from cheek, hair or saliva. That sample is allowed to be divided into two parts. We have to extract DNA from that sample and have to purify it. We can detect common beta-thalassemia mutation in the DNA sample of Patient by sequencing technology (involve full gene sequencing for the reading the related genes).

Type Gender Age-Group Value
Beta Thalassemia Globin Sequencing Gene Testing Blood
Unisex
All age groups
< 3.5%

Table of Content

What is Thalassemia Beta globin gene sequencing Test?
Preparation for Thalassemia Beta globin gene sequencing Test
Uses of Thalassemia Beta globin gene sequencing Test
Procedure for Thalassemia Beta globin gene sequencing Test
Normal values for Thalassemia Beta globin gene sequencing Test
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Popular Questions & Answers

Presently I have getting white hairs, I think my father genes comes to me. Please give me few suggestions for upcoming & present white hair problems.

M.D.(Ayu.) Basic Principles, B.A.M.S., I.P.G.T.& R.A., GAU
Ayurveda, Ajmer
Presently I have getting white hairs, I think my father genes comes to me. Please give me few suggestions for upcomin...
Hi Dear Lybrate user U hv to avoid following things 1.fine wheat or meda made products 2.Bekari products as Biskit, Namakin etc 3. Fermented products as edali, dhokla et 4 Avoid ladyfinger, Patoto, Cluster beans 5 Oily, Spicy, fatty, Fried foods, chines panjabi Junk food etc Use following food stuffs which r light, easy to digest & gave bust of energy 1. Fibrous wheat Barley made chapati 2 Saindhav salt 3. Mung, tuvar dal 4 Daliya, Khichadi 5.Indian Desi cow's milk, ghee, butter 6. Fruits- Pomegranate, apple 7. Dry fruit only black kishmish 8. Veg- spinach, onion, loki, praval, karela etv green leafy vegetables tc if you need further assistance feel free to contact privately.
63 people found this helpful

Hello, Doctor I am 18 year old. My hair becomes white. What I do. Please tell me. What kind of shampoo I use? What I eat? What kind of oil I apply in my hair? And what kind of medicine Shall I take?

BHMS
Homeopath, Chennai
Hello, Doctor I am 18 year old. My hair becomes white. What I do. Please tell me. What kind of shampoo I use? What I ...
Greying of hair before the age of 35 years is referred to as premature greying. It has seen an increase over the past several years, and the main reasons could be stress or anxiety, improper diet, overuse of shampoosand conditioners or, of course, it could be inyour genes. There have been cases of children as young as 8-10 years of age reporting greying of hair. The premature greying of hair can be successfully treated with Homeopathic medicines. The Homeopathic remedies for premature greying of hair are made of natural substances and are free from any side effects. The Homeopathic medicines act in the most gentle and natural way to halt the process of greying of hair. You can easily take an online consultation for further treatment guidance and permanent cure without any side effects.
1 person found this helpful

Day by days my hairs from head are falling, and I am worried about my hairs. And my hairs are turning in white colour please advise.

BHMS
Homeopath, Chennai
Day by days my hairs from head are falling, and I am worried about my hairs. And my hairs are turning in white colour...
Greying of hair before the age of 35 years is referred to as premature greying. It has seen an increase over the past several years, and the main reasons could be stress or anxiety, improper diet, overuse of shampoosand conditioners or, of course, it could be inyour genes. There have been cases of children as young as 8-10 years of age reporting greying of hair. The premature greying of hair can be successfully treated with Homeopathic medicines. The Homeopathic remedies for premature greying of hair are made of natural substances and are free from any side effects. The Homeopathic medicines act in the most gentle and natural way to halt the process of greying of hair. Homeopathy can very efficiently deal with cases of hair loss, and produce excellent results. In Homeopathy, a huge number of wonderful medicines are present that are used to tackle hair loss cases. Every kind of hair loss (ranging from hair loss due to anemia / nutritional deficiencies, due to skin disorders, due to mental / physical trauma, due to childbirth or menopause, after acute diseases, to alopecia areata, alopecia totalis or androgenetic alopecia) can be treated with the help of well selected homeopathic medicines. To treat hair loss through homeopathy detail case history of the patient needs to be studied. The cause and site of hair loss are to be noted down along with the constitutional symptoms of the patient which are given prime importance in any kind of case of hair loss. The constitutional symptoms include the eating habits, level of thirst, thermals, mental symptom etc. And these are to be given top position in forming the totality of symptoms while case taking. After the case has been properly evaluated, the case homeopathic medicine is administered to the patient You can easily take an online consultation for further treatment guidance and permanent cure without any side effects.

I not get period from last 62 day I am married living with husband. Checked pregnancy test before 15 days that time test was negative. What should I do? Pls help.

Bachelor of Unani Medicine & Surgery (B.U.M.S), CCH, CGO, CSD
Unani Specialist, Mumbai
I not get period from last 62 day I am married living with husband. Checked pregnancy test before 15 days that time t...
Your period were regular before (28 days cycle). If yes then you need to do blood test. Adv: Sr. Beta HCG level.
2 people found this helpful

Popular Health Tips

Myths And Facts About Diabetes!

MBBS, CCEBDM, Diploma in Diabetology, Diploma in Clinical Nutrition & Dietetics, Cetificate Course In Thyroid Disorders Management (CCMTD)
Endocrinologist, Dharwad
Myths And Facts About Diabetes!

 1) Diabetes is curable :

Diabetes is  mainly due deficiency of Insulin (hormone produced by Beta cells of pancreas), plus resistance to action of insulin, overweightor obesity  and inactivity. Therefore, to treat diabetes we need drugs that initiate insulin secretion, reduce insulin resistance. In some cases  insulin itself. Plus dietary control and regular exercise to maintain normal weight or reduce excess weight. Hence it can only be effectively controlled. Cure is not possible.

2) Eating Sugar or Sweets causes Diabetes :

It is incorrect to say that eating sweets and / or sugar causes diabetes. Basically excess food intake will lead to excess production of glucose. That puts excess load on insulin producing cells in pancreas due glucotoxicity. Also due to central obesity  the fat around internal organs causes lipotoxicity affecting the beta cells. Therefore, excess food intake in general and weight gain  are the reasons for diabetes.

3) Jaggery is better or safe in diabetes :

Jaggery and sugar both are essentially same. Both contain sucrose, as they are prepared from sugar cane juice. Hence eating either of these will increase blood glucose considerably. In jaggery there are some vitamins and a few antioxidants. But both are bad for a diabetic person.

4) Rice should not be eaten in diabetes :

Not really true. Because in south India this is the major or at times only main food. Rice has a high glycemic index so gets converted to glucose rapidly. So polished rice is not good. Brown rice is better. Quantity should be regulated. All other cereals  also are converted  glucose after digestion. 

5)Allopathic Medications Damage Kidneys, so go for either Ayurvedic or Homeopathic Drugs :

In fact diabetes itself affects kidney, particularly the filtering membrane of glomerulurous  (a filtering unit in the kidney).   Even when diabetes fairly well controlled, kidney does get affected. The drugs used to treat diabetes  help in overcoming kidney damage. Therefore it is wrong to think that modern drugs cause kidney damage. In fact some of the other drugs contain heavy metals (Bhasmas), which can be harmful to the kidney.

6) Sugar intake is essential for body :

Some people keep asking that eating sugar is very necessary for getting energy for the body tissues. This is not at all true.  Because all the cereals like rice, jowar, wheat, ragi, bajra and other millets, contain starch as the main ingredient. Hence intake of each of these foods  provides glucose after digestion. So there is no separate need for taking sugar.

Few things to be remembered and practiced are :

  • Always use whole grain flour, as it contains a good amount of biber content for making chapati or roti.
  • Consume more of green leafy vegetables and salads with every meal.
  • Consider fruits and green leafy vegetables as part of regular snacks
  • Take small meals on more number of occasion to avoid glucose surge.
  • Avoid Maida and foods made from it. It is probably worst kind of food that one can consume.
  • Form healthy food habits.
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Blood Pressure Medicines!

MBBS, Dip.Cardiology, Fellowship in Clinical Cardiology(FICC), Fellowship in Echocardiology
Cardiologist, Ghaziabad
Blood Pressure Medicines!

High blood pressure, also called hypertension, usually has no symptoms. But it can cause serious problems such as strokeheart failureheart attack and kidney failure. If you cannot control your high blood pressure through lifestyle changes such as losing weight and reducing sodium in your diet, you may need medicines.

Blood pressure medicines work in different ways to lower blood pressure. Some remove extra fluid and salt from the body. Others slow down the heartbeat or relax and widen blood vessels. Often, two or more medicines work better than one.

FDA has approved many medications to treat high blood pressure, including

  • Diuretics, or “water pills,” which help the kidneys flush extra water and salt from your body and decrease blood volume
  • Angiotensin converting enzyme (ACE) inhibitors and Angiotensin II receptor blockers (ARBs), reduce blood pressure by relaxing blood vessels
  • Beta blockers, which also cause the heart to beat with less force
  • Drugs that directly relax the blood vessels. These include calcium channel blockers (CCBs) and other direct dilators (relaxers) of blood vessels
  • Alpha blockers, which reduce nerve impulses that tighten blood vessels
  • Nervous system inhibitors, which control nerve impulses from the brain to relax blood vessels

Many people with high blood pressure may need more than one medication to reach their goal blood pressure. Your health care provider can tell you if you should be on medication and, if so, which drug(s) may be best for you.

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Anemia (Low Haemoglobin)

MBBS, Dip.Cardiology, Fellowship in Clinical Cardiology(FICC), Fellowship in Echocardiology
Cardiologist, Ghaziabad
Anemia (Low Haemoglobin)

If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body.

Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction.

Conditions that may lead to anemia include

Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache.

Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have.

2 people found this helpful

5 Super Fruits That Prevent Hair Fall!

M.Sc. in Dietetics and Food Service Management , Post Graduate Diploma In Computer Application, P.G.Diploma in Clinical Nutrition & Dietetics , B.Sc.Clinical Nutrition & Dietetics
Dietitian/Nutritionist, Mumbai
5 Super Fruits That Prevent Hair Fall!

5 super fruits that prevent hair fall 

1. Strawberries: The benefits of this beautiful fruit are many so many that beauty and health enthusiasts can write an ode to the strawberry. This fruit comes loaded with silica a component that’s known to prevent baldness and aid hair growth.

2. Apples

Apple is filled with soluble fibre, phenolic compound in apple skin, antioxidants and vitamins, this fruit sings to your body and serenades your hair. So much so that if eaten regularly, it will prevent hair fall and benefit your overall health in many ways. When buying apples, be wary of the amount of wax on them.

3. Grapes

 Grape seed oil is full of antioxidants, vitamins, natural sugars and a lot more, grapes clean out your system and prevent hair fall. One of the most delicious fruits that are high in water content, these little ovals of joy will do your crowning glory a world of good.

4. Bananas

 This potassium-loaded fruit comes packed with vitamin b, magnesium, fibre, pectin and a host of other goodies that do nothing but enhance your overall health. And as if that’s not enough, this sunshine fruits ensures that your strands of hair maintain their thickness by preventing hair fall.

5. Oranges

Vitamin c – this fruits practically sings this vitamin. Besides the fabulous c, it’s loaded with antioxidants, flavonoids, beta-carotene, magnesium, fibre and a host of essential vitamins and minerals.

11 people found this helpful

Heartburn Drugs - Are They Safe?

MBBS, Diploma in Public Health ( Preventive and Social Medicine)
General Physician, Navi Mumbai
Heartburn Drugs - Are They Safe?

If you check the recent scientific studies, then you will come to know that PPI drugs are treated as the popular medicines to treat heartburn troubles, but as the side-effect, you will face acute cognitive troubles. Your mental condition might get affected in various ways causing memory or concentration loss, decrease in brain ability and others. Though, these drugs are very safe but only effectively treating heartburn troubles, especially gastroesophageal-reflux disease. 

How Dementia is related with PPI drugs? 
PPI drugs are normally recommended by doctors for treating heartburn issues, but if you are taking these drugs on a continuous basis, then you might face the unwanted signs or symptoms of dementia. This is a hardcore fact, and it has been observed by many reputed researchers of the present age. There are some commonest symptoms that can be observed due to dementia, and some of the prominent ones are as follows:-

  1. Beta-amyloid production: Beta-amyloid is a kind of protein and the growth of this specific protein increases to a great extent with the consistent intake of PPI drugs. This protein might lead to the increase in varied dementia signs, out of which the most severe kind of situation is Alzheimer's disease. This disease might get converted into dreadful condition at times, and this is the reason a regular or consistent intake of PPI drugs should be essentially avoided. If you are facing this condition, then you should report about the same to your doctor immediately. This protein is very toxic or harmful for the brain as your mental ability is being adversely affected. 
  2. Decrease of vitamin B12: If vitamin B12 decreases day by day, then acute mental disturbances will get invited. If you want to avoid this kind of condition, then nothing can be a better option other than avoiding PPI drugs. This is the only reason that doctors never recommend taking these drugs in an excessive limit. In fact, sometimes, these drugs are prescribed along with other potential medicines that can help in maintaining mental health in good condition. If you have got any family history of mental trouble, then you should reveal the same to your doctor so that strong PPI medicines are not prescribed for gastric troubles. In fact, there are few limitations among PPI drugs that are never to be prescribed by doctors and all the doctors should follow the same in a sincere manner. If you wish to discuss about any specific problem, you can consult a General Physician.
5538 people found this helpful