Thalassemia - Glossary

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dr. simi paknikar
Medically Reviewed by dr. simi paknikar, MD
Last Updated on Jan 11, 2017
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Glossary

Globin: The protein component of hemoglobin

Splenectomy: Surgical removal of spleen

Hb: Hemoglobin

Hemoglobin: Protein that enables red blood cells to carry oxygen and carbon dioxide

Thalassemia: The thalassemias are a group of genetic blood disorders that affect a person’s ability to produce hemoglobin

Mosaic: An individual with two cell types or more, comprising of different chromosome number or structure

Genetic Counselling: A communicative procedure that undertakes to deal with the problems that rise in a family with the occurrence or the risk of occurrence of a genetic abnormality

Pedigree: A pedigree involves recording a family's history and making use of a standard set of symbols to represent the status of each member of the family

Allele: An allele is an alternative form of a gene loated on a given locus of a chromosome

Gene: Genes are located on the chromosomes and carry the information representing a protein

Chromosomes: Chromosomes are structures made up of DNA and proteins found in the cells of all organisms.The number of chromosomes is species- specific.In humans it is 46.

DNA: The DNA is the basic unit of heredity and is known as the blue print of life.It carries the genetic codes which stores the necessary information for all organisms.

Genotype: Genotype indicates the genetic constitution of an organism

Phenotype: Phenotype refers to the physical appearance of an organism which is controlled by the genotype and the enviornment

Haploid Cell: A cell having only one set of chromosomes,ie.23 numbers in humans

Diploid Cell: Having two sets of chromosomes,46 numbers in humans

Hybrid: An offspring of parents belonging to two different species,example mule which is the offspring of a horse and donkey

Mutation: An inheritable change in the gene or the chromosome

Wild Type: An organism having a normal phenotype

Mutant: An organism harboring a mutation

Trisomy: A condition ,which arises due to the presence of an extra chromosome.An example is Down syndrome, where the individual has an extra chromosome 21

Mitosis: A division by which the cells reproduce, wherein the resultant cells are the replica of the parent cell.

Meiosis: A special kind of cell division,called reduction division, that takes place in the testes and the ovaries, which produces eggs and sperms that are haploid

Consanguinous marriage: A marriage between two closely related individuals

Euploidy: When an organism has the regular chromosome number,example 46 numbers in humans, it is euploid.

Aneuploidy: When an organism has an abnormal number of chromosomes as in Down Syndrome, it is known as aneuploidy.

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Very good. It will help Thalassemia children and parents to learn more about Thalassemia.

salam
dear dr sahib
to day i saw your website on internet and i am very impress that u trying to treat thalassemia. i have a problumb that i want to tell you i have 9mounth baby he hase thalassemia Major we tried alot to treat him but invain becouse we also tried for Bone marrow transplant but his brother and sister bothe result wer matchless now we want to know abt any other treatment which serve our child in this case we need ur help if u have any treatment or know abt any perfect treatment please inform us i will be waiting for your reply .

what is difference between bonemarrow & Cord blood stem cell transplantation? Which is the successful method or the estimated successful percentage for this? I thank Dr. Revathi Raj for hard work for his big acheivement. I am a father of 2+ Thalasemic boy.

ThankfulMom

Dr.Reavathy Raj is a great expert in the field of Hematology. She tailors treatments that will best suit the individual patients. She is Great.

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