The SLC25A38 gene helps young red blood cells make heme, a key part of hemoglobin that carries oxygen. When both copies of this gene do not work properly, a person can develop congenital sideroblastic anemia, a condition where iron is not used normally to make hemoglobin. This gene plays an important role in red blood cell production, and people may have tiredness, pale skin, or shortness of breath from anemia.
What is a gene?
Genes are stretches of DNA that give your cells the instructions they use to make molecules or manage activities in the body. Some genes carry the code for proteins, which do much of the cell’s work. Others are mainly involved in regulating when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body grows and works, and they can influence how you react to food, stress, and medicines. For a deeper look at this topic, more information is available in LearnHub.
Overview
SLC25A38Gene function
What if the gene works
The SLC25A38 gene helps developing red blood cells make heme, the part of hemoglobin that carries oxygen. Its protein moves small building blocks into mitochondria, supporting normal red blood cell function.
Risk
What if the gene does not work
Variants in the SLC25A38 gene can cause congenital sideroblastic anemia, where bone marrow makes red blood cells poorly. Anemia may begin in infancy or later, often causing tiredness and pale skin, with effects ranging from milder to more severe.
Treatment
What does that mean for your treatment
No treatment or drug choice that is specific to pathogenic variants in the SLC25A38 gene is currently established in clinical guidelines. Research is exploring how the SLC25A38 gene affects heme production in congenital sideroblastic anemia, but this has not yet led to a targeted medicine used in routine care.
Conditions associated with SLC25A38
Gene function
What if the gene works
Your cells use the SLC25A38 gene to support an early step in making heme, the part of hemoglobin that holds iron. This work happens in mitochondria, the parts of cells that make energy, and it matters most in developing red blood cells. Understanding how the SLC25A38 gene helps red blood cells make hemoglobin gives useful context for its everyday role.
The SLC25A38 gene helps move a small building block called glycine into mitochondria. This gives the cell material needed to start making heme.
Inside mitochondria, this gene supports one of the earliest steps in heme production. Heme is the iron holding part of hemoglobin, which carries oxygen in red blood cells.
This job is especially important in developing red blood cells, which need large amounts of hemoglobin. When this gene works properly, it supports steady hemoglobin building as these cells mature.
What is a variant?
A genetic variant is a minor difference in the DNA sequence of a gene. These differences are common and help shape normal human diversity, such as variation in appearance, metabolism, or the way the body responds to environmental influences. Many have no noticeable effect and simply reflect natural genetic variation. In some situations, though, a variant can change a gene’s function more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the SLC25A38 gene often reduce or block the protein’s ability to move glycine into mitochondria, so developing red blood cells may not make heme effectively. Some variants mainly weaken transport or protein stability, while more severe variants can stop the protein from being made at all. This range in how SLC25A38 gene variants affect heme production helps explain why congenital sideroblastic anemia may start earlier and be more marked in some people than in others.
How variants are linked to conditions
Pathogenic variants in both copies of the SLC25A38 gene cause autosomal recessive congenital sideroblastic anemia, often called SLC25A38-related congenital sideroblastic anemia. This inherited condition usually begins in infancy or childhood and is linked to ongoing anemia that can cause tiredness, pale skin, shortness of breath, or poor growth. This is the main well-established condition associated with the SLC25A38 gene.
A variant is not necessarily a diagnosis
Variants in genes are a usual part of human biology and are widely found in the general population. Most have no direct effect on health and simply reflect normal human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when more than one gene and environmental factors also contribute. In some cases, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For SLC25A38, risk is mainly shaped by whether someone inherits disease-causing changes in both copies of the gene, often through family history. There is not yet broadly confirmed evidence that lifestyle, diet, or environmental factors meaningfully change the chance of developing this condition. A doctor or genetic counselor can help explain what this means for your personal or family risk.
Inheritance of SLC25A38 variants
SLC25A38-related inherited sideroblastic anemia follows an autosomal recessive pattern. This means a child usually needs to inherit two disease-causing variants in the SLC25A38 gene, one from each parent, to have the condition. If both parents carry one variant, each pregnancy has a 25% chance of an affected child, a 50% chance of a child who is a carrier, and a 25% chance of a child who inherits neither variant. This pattern explains how SLC25A38 gene variants are inherited in families.
What does my SLC25A38 result mean for my family?
For families with an SLC25A38-related condition, close relatives may also carry the gene change, even if they feel well. Brothers and sisters may have the same condition or be carriers, and parents are usually carriers. Other relatives, such as aunts, uncles, and cousins, may also carry the change, so the result can matter beyond one person.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry variants in the SLC25A38 gene, doctors use SLC25A38 genetic testing, which reads the DNA code from a blood, saliva, or cheek swab sample. The lab looks for changes in this gene that may help explain inherited sideroblastic anemia or confirm whether a family variant is present.
When should I consider getting a genetic test?
Testing for the SLC25A38 gene may be worth discussing if you or your child has unexplained anemia, especially starting in infancy or childhood, or if there is a family history of an inherited anemia. It can also help clarify whether both parents carry a change linked to this condition.
A genetic result is only one part of your health story
Genetic test results can provide meaningful insight, but how much they explain varies by the condition and the type of variant involved. Many other factors, including lifestyle, environment, age, and medical history, also shape how the body works over time. For some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is best considered alongside other aspects of care. In other situations, a genetic result may offer a clear answer. In areas like medication response, genetic results can also help put individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body handles medicines, so the same treatment may work well for one person but less well for another. Some gene changes influence how quickly a drug is broken down, how much of it reaches its target, or how sensitive the body is to its effects. This kind of variation is common and can shape both benefits and side effects.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can affect the way a person responds to medication. It focuses on patterns between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes can influence both how strongly a drug works and how the body processes it. Understanding this can support more informed and more individualized treatment decisions. More information on this topic is available in the LearnHub.
Drugs influenced by the SLC25A38 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding how medicines are chosen or used. If you have concerns about side effects, a new prescription, or how treatment fits your overall health, it is a good idea to talk with your doctor or pharmacist.