Thalassaemia is inherent impairment of haemoglobin production due to partial or complete failure to synthesize a specific type of globin chain.

Hereditary disorders that result in a structurally abnormal hemoglobin or an insufficient quantity of hemoglobin are the most common genetic diseases of humans.

The production of hemoglobin requires a supply of iron, synthesis of heme, and synthesis of globin. Hemoglobin is essential for normal oxygen delivery by red blood cells.

When the condition is Heterozygous, the production of hemoglobin is mildly affected and the condition causes little disability. The synthesis is grossly affected when the patient is Homozygous.

In thalassaemias there is decrease in the quantity of normal globin chains in the hemoglobin. Thalassaemias are divided into the alpha thalassaemias, in which it is the production of alpha globin is deficient, and the beta thalassaemias, in which beta globin production is defective. The thalassaemias are divided clinically into Thalassaemia Minor and Thalassaemia Major, based on disease severity.


In this there is failure to synthesize beta globin chains. It is the most common type and is seen in highest frequency in the Mediterranean area. Those who are heterozygous, are thalassaemia minor, the condition is mild with mild anaemia and usually no disability. The homozygous are thalassaemia major, have profound anaemia after first 4 months of life.

Beta Thalassaemia major
Causes profound anaemia which has crippling effect on the health of the child. The child needs blood transfusion and chances for survival without transfusion for few years are low. Changes in the bone marrow (hyperplasia), results in head bossing and prominent malar eminences, which gives typical appearance of these diseases.

Development and growth of the child is retarded.
Folic acid deficiency develops.
Spleenomegaly (enlargement of spleen) is an early feature.
Cardiac enlargement with heart failure is common.

Repeated transfusions give rise to haemosiderosis (excessive deposition of iron ).

Beta Thalassaemia minor
Is detected often after treatment for mild anaemia with iron therapy fails. The condition is mild and often without any symptom.

Management of Beta Thalassaemia

  • Blood transfusion to maintain haemoglobin.
  • Bone marrow transplantation – Allogeneic bone marrow transplantation from HLA complatible sibling.
  • Folic acid 5 mg daily.
  • In case of iron overload – Desferrioxamine therapy.
  • Splenectomy performed as late as possible.

During early in pregnancy, DNA analysis of chorionic villus material can be done to identify a fetus with homozygous beta thalassaemia. Such pregnancy can be terminated. This examination can be done if both the parents are known to be carriers (thalassaemia minor).

Alpah Thalassaemia

It is due to reduction or absence of alpha chain synthesis. This type is common in the South East Asia. There are 2 alpha gene loci on chromosome 16 are therefore four alpha genes. If one is deleted there is no clinical effect. If two are deleted there may be a mild hypochromic anaemia. If three are deleted the patient has Hemoglobin H disease. If all four are deleted the baby is still born. Treatment of Hemoglobin H is similar to beta thalassaemia of intermediate severity.

Genetic Disorders

This entry was posted in Diseases & Conditions, Genetics and tagged by Manbir & Gurpreet. Bookmark the permalink.

About Manbir & Gurpreet

Gurpreet Kaur’s journey in this world .... Gurpreet Kaur was a Musician. She was a singer and a composer of music. Her interest was composing and singing Gurbani Shabads in Indian Classical style. She sang Shabads in All the Raags mentioned in Sri Guru Granth Sahib Ji. She also taught Gurmat Sangeet at Gurmat Gian Missionary College, Jawadi, Ludhiana. Elder child to Pushpinder Kaur and Dr. Brig. Harminder Singh, was born in Amritsar on 13th Jan 1962. She attended various convent schools as a child because her father would get frequent Army postings as a dental surgeon. She graduated with Music Honors from Govt. College for Women, Chandigarh. Music was her hobby and she composed and sang Raag based Gurbani Shabads. Doing Kirtan was part of growing up nurtured by her parents. She learned music from her father Dr. Brigadier Harminder Singh who was a dental surgeon in Indian Army and a very good singer himself. Gurpreet’s Bhua (father’s sister), Ajit Kaur retied as a Head of Department of Music from Govt. College for Women Ludhiana, and was a renounced Punjabi singer of her time. Gurpreet Kaur also learned nuances of Indian Classical Music from Pandita Sharma. She was a mother of three children, and a grandmother. Her daughter Keerat Kaur is a Computer Engineer. Her two sons Gurkeerat Singh and Jaskeerat Singh are doctors in USA. Her daughter Keerat Kaur too was part of her group ~ Gurmat Gian Group. Gurpreet Kaur left this world at the age of 54yrs on 12th Sept 2016 in Baltimore USA. She had recorded around 25 cds of Gurbani Keertan. 'Raag Ratan' Album (6 CDs) is a Compilation of Shabads in All the 31 Sudh Raags of Sri Guru Granth Sahib Ji. 'Gauri Sagar' Album (3 CDs) is a Compilation of All forms of Raag Gauri in Sri Guru Granth Sahib Ji. 'Nanak Ki Malhaar' ~ ((3 CDs) is an album of Raag Malhar Shabads in various forms of Malhar. 'Gur Parsaad Basant Bana' ~ (3 CDs) is an album of Shabads in Raag Basant sung in various forms of Raag Basant. Har Ki Vadeyai Sarni Aayea Sewa Priya Kee Preet Piyaree Mohan Ghar Aavho Karo Jodariya Mo Kao Taar Le Raama Taar Le Tere Kavan Kavan Gun Keh Keh Gawan Mera Baid Guru Govinda Saajanrraa Mera Saajanrraa

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s