Thalassemia syndromes are inherited disorders of alpha or beta globin biosynthesis. The reduced supply of globin diminishes production of hemoglobin tetramers, causing hypochromia and microcytosis.
Thalassemia syndromes are inherited disorders of alpha or beta globin biosynthesis.
The reduced supply of globin diminishes production of hemoglobin tetramers, causing hypochromia and microcytosis.
Key facts
- Thalassemia was first discovered in Asia and African populations, with the first reported diagnosis being made in Greece and Turkey. For this reason, it was often called Mediterranean Anemia.
- Thalassemia is not contagious like HIV, but a woman can transfer Thalassemia to her child during her pregnancy. Millions of people worldwide suffer from Thalassemia.
Unbalanced accumulation of these chains dominates the clinical phenotype.
The clinical severity varies in different degrees to which the synthesis of the unaffected globin chain proceeds at a normal rate.
The degree to which the synthesis of the affected globin in Impaired, altered synthesis of other globin chains (Alpha or Beta) and the coinheritance of the abnormal alleles.
Clinical Manifestation of Beta Thalassemia Syndromes
- Massive bone marrow expansion deranges growth and development.
The children develop characteristics as follows:
- Chipmunk facies
- Maxillary narrow hyperplasia
- Frontal bossing
- Thinning and cortical invasion of erythroid elements
- Hepatosplenomegaly
- Fracture of lone bones
- Leg ulcer
- Gall stones
- Congestive cardiac failure
Further symptoms seen are as follows:
- Dizziness
- Shortness of breath
- Fast heart beat
- Headache
- Cramps in Leg
- Difficulty in concentration
- Pale skin
Thalassemia has an autosomal recessive pattern of inheritance.
Note: If both parents are seen carrying a hemoglobinopathy trait, the risk is seen to be 25% for each pregnancy for an affected child..
Types of Thalassemia
- Alpha-Thalassemia
α-Thalassemia generally involves the genes HBA1 and HBA2; the inheritance is in a Mendelian recessive manner.
Severity of α-Thalassemia is generally correlated with number of affected α-globin; alleles: the greater, the more severe will be the manifestations of the disease
- Beta-Thalassemia
Beta Thalassemia is generally seen due to the mutations in HBB gene on the chromosome 11
It is then inherited in the autosomal, recessive fashion. Severity of disease would depend on nature of your mutation and on presence of mutations in either one or even both alleles.
- Delta-Thalassemia
In an individual, as an alpha and the beta chains present in the hemoglobin, around 3% of the adult hemoglobin is seen to be made up of alpha and the delta chains.
Just as with your beta Thalassemia, your mutations can affect ability of your gene to further produce the delta chains as well.
Diagnosis
The Thalassemia disease could be diagnosed via the following tests:
- Complete blood count
- Hemoglobin electrophoresis
- High-performance liquid chromatography
- DNA testing
Note: Furthermore, the Mentzer index can also be used to calculate Thalassemia from the complete blood count report.
Other Names:
Constant Spring, Cooley’s anemia, or hemoglobin Bart hydrops fetalis
Thalassemia Subtypes
The characterization of Thalassemia can be made on the type of chains. Furthermore, it is also made on the basis of it being either Major or Minor.
Minor
Thalassemia minor is considered to be a mild form of this disease in which the patient would inherit only one of the mutated gene and then it acts as a carrier.
Major
Thalassemia major, on the other hand, is considered to a severe form of the disease that can cause serious illness. The patient inherits two mutated genes, one from each parent, which results in a deficiency of hemoglobin in our body.
Treatment
Many times, it is seen that the people with Thalassemia would be prescribed the supplemental B vitamin, which is known as folic acid, this is be used to treat anemia.
The folic acid will then help in the red blood cells to develop.
The treatment with the folic acid will be usually done in addition to the other therapies.
Medication and Management Procedures:
- Blood transfusion
- Bone marrow transplantation
- Cholecystectomy: Removal of the gallbladder for the symptomatic patients.
Self-care
Note: Remember to speak to your provider before you start any medication on your own.
- Avoid the iron-rich foods or even the iron supplements
- Consume a balanced diet
- Prevent infections
- Recommended vaccines in time
Nutrition
Do’s
- Cereals ( example-wheat, maize, or oats and rice)
- Tea & coffee
- Dairy products (example-milk, or cheese or yogurt)
Don’t
- Iron-rich food: (example- the fish, or meat, or oysters, or beans, or the fortified Cereals, some bread and fruit juice)
- Foods that are rich in proteins die ( for example- oyster liver or pork)
- The fruits and vegetables rich in iron (for example- spinach broccoli, peas)
To seek Free Consultation from the Doctor:
Contact- Dr. Ravin Sharma, (MBBS, MD in Radiology)
Available: 24*7*365
Phone Number: +919212125996
Why Ganesh diagnostic and Imaging Centre should be your preference to screen you for Thalassemia?
At Ganesh Diagnostic and Imaging Centre, we are known for providing excellent service and care to its patients for decades. Lakhs of satisfied patients over the years!
It is an established and renowned diagnostic centre since 2001.
Their excellence is backed by NABH and NABL Accreditations.
NABH accreditation is proof of highest standard of care and service provided to the patients. NABL accreditation reflects the competency of laboratories and equipment based on some national and international standards.
Test report is available digitally too.
Ganesh Diagnostic and Imaging Centre is a one-stop solution for getting all kinds of tests done, as all services are available under one roof.
The aim of GDIC is to provide world’s finest technology at the lowest price.
We are based in Delhi NCR Region, and our branches are in the following regions:
Yamuna Vihar, Mangol Puri, Budh Vihar, Model Town, Hari Nagar, Nagloi
The rates of scans are reasonably priced. Ganesh Diagnostic and Imaging Centre also offer FLAT 50% OFF on many tests.
Tests conducted at Ganesh Diagnostic and Imaging Center
- Alpha Thalassemia - HBA1 Deletions Test- BOOK NOW
- Alpha Thalassemia - HBA1 Gene Sequencing Test - BOOK NOW
- Alpha Thalassemia Mutation Test- BOOK NOW
- Alpha Thalassemia Trait Test- BOOK NOW
- Beta Thalassemia- BOOK NOW
- Beta Thalassemia - BCL1 and HBS1L- MYB Polymorphism Test - BOOK NOW
- Beta Thalassemia XMN Polymorphism Test - BOOK NOW
- Beta Thalassemia Mutation Detection Prenatal Test- BOOK NOW
- Beta Thalassemia: HBB Gene Sequencing Test- BOOK NOW
- Beta Thalassemia: Prenatal Diagnosis Test- BOOK NOW
References:
- https://www.cdc.gov/ncbddd/thalassemia/facts.html
- Harrison’s Principles of Internal Medicine, 20 th edition, Volume 2 pages 696-698
- https://en.wikipedia.org/wiki/Thalassemia
Note from Ganesh Diagnostic & Imaging Center
- Early checkups are always better than delayed ones. Safety, precaution & care are depicted in the several health checkups at our center.
- Here, at Ganesh Diagnostic and Imagining Center, we present simple & comprehensive health packages for any kind of testing to ensure the early prescribed treatment to safeguard your health.
- So, visit us at the earliest to ensure good health and to maintain an active immune system.
.webp "What is Arterial Blood Gas (ABG)?")
