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Normal Function
The KLF1 gene provides instructions for making a protein that acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Specifically, the KLF1 protein helps control the activity of genes that are involved in the differentiation of red blood cells by regulating the final stages of red blood cell development (erythropoiesis).
The KLF1 protein plays an important role in the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells and tissues throughout the body. During development, the KLF1 protein regulates the switch from the production of fetal hemoglobin, which is prevalent during embryonic development and early infancy, to the adult form of hemoglobin, which is produced throughout life.
Health Conditions Related to Genetic Changes
Congenital dyserythropoietic anemia
A variant (also called a mutation) in the KLF1 gene has been identified in people with congenital dyserythropoietic anemia (CDA) type IV. This condition is characterized by a shortage of red blood cells that is caused by abnormal red blood cell formation (dyserythropoietic anemia). In people with CDA type IV, immature red blood cells are abnormal and cannot develop into functional, mature cells. This often leads to weakness, an enlarged liver and spleen (hepatosplenomegaly), the buildup of too much iron (iron overload), and short stature in people with CDA type IV. The anemia in CDA type IV often begins prenatally or soon after birth, and it is typically severe.
The KLF1 gene variant leads to a change in a single protein building block (amino acid) in the protein. The KLF1 gene variant that causes CDA type IV reduces the function of the protein and disrupts its regulation of multiple genes that are involved in the normal development of red blood cells. People with CDA type IV tend to produce higher than normal levels of fetal hemoglobin throughout their lives. In people with CDA type IV, immature red blood cells called erythroblasts are unusually shaped and may have more than one nucleus. These defective erythroblasts cannot develop into functional, mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia and the other features of CDA type IV.
More About This Health ConditionOther Names for This Gene
- EKLF
- Erythroid krueppel-like transcription factor
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Bieker JJ, Philipsen S. Erythroid Kruppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation. Adv Exp Med Biol. 2024;1459:217-242. doi: 10.1007/978-3-031-62731-6_10. Citation on PubMed
- Iolascon A, Andolfo I, Russo R. Congenital dyserythropoietic anemias. Blood. 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. Citation on PubMed
- Russo R, Iolascon A, Andolfo I, Marra R, Rosato BE. Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias. Int J Lab Hematol. 2024 Aug;46(4):595-605. doi: 10.1111/ijlh.14307. Epub 2024 May 15. Citation on PubMed
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