The erythrocyte or red blood cell (RBC) is a critical structure in the life of animals. Red blood cells serve primarily as oxygen-carriers and this role is made possible by hemoglobin – a protein combined with a porphyrin (special ring structure) molecule that binds and carries iron atoms. Hemoglobins are able to bind and hold oxygen and release this oxygen under appropriate conditions.

Sometimes gene changes or mutations occur that alter the amino acids in the protein chains of hemoglobin. These amino acid changes distort the hemoglobin molecule and this alteration of structure often affects the oxygen-transport function. Read how some of these changes occur and the consequences that may follow.

Hemoglobin and Gene Mutations, DNA Mutations, Protein Changes and Red Blood Cell Effects

Genes on chromosomes mutate from time to time throughout the human genome (46 chromosomes with about 30,000 genes total). Gene mutations are permanent changes in the DNA of a cell. All genes are subject to gene mutations. The cellular enzyme called DNA polymerase may or may not be able to repair gene mutations. The DNA is the information molecule of the cell. When gene mutations occur, amino acid changes may also occur. Some gene mutations are simple base-pair changes of the DNA. Other mutations are more complicated.

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