Transferrin deficiency in children signs causes and treatment methods

Transferrin deficiency in children is a health condition that can sometimes go unnoticed by parents, but it has a direct impact on a child’s growth and overall health. Transferrin is an important protein that transports iron throughout the body, and any deficiency can lead to anemia, weakened immunity, and delayed physical and cognitive development.In this Daleely Medical article, we will discuss the causes of transferrin deficiency, its symptoms, diagnostic methods, and treatment using medications and vitamins. We will also provide practical tips for parents to help maintain their children’s health and prevent potential complications.

What is Transferrin?

Transferrin is a protein found in the blood, and its main function is to transport iron from food and the liver to the rest of the body. Iron is very important for healthy blood formation and proper growth in children.

Causes of Transferrin Deficiency in Children

Transferrin deficiency can happen for several reasons, including:

Poor nutrition or low protein intake: Not getting enough protein in the diet can reduce transferrin production.
Chronic liver diseases: The liver is the main organ that produces transferrin.
Chronic infections or long-term illnesses: The body reduces transferrin production during inflammation.
Protein loss through the kidneys: Certain kidney diseases can lead to protein loss from the blood.
Rare genetic cases: Some children are born with very low transferrin levels due to a genetic defect.

Symptoms of Transferrin Deficiency in Children

Symptoms vary depending on the severity of the deficiency and often include:

Fatigue and tiredness even with light activity.
Pale skin, especially on the face and lips.
Poor concentration and learning difficulties in older children.
Weak or brittle hair and nails.
In severe cases: increased susceptibility to infections.

Diagnosis of Transferrin Deficiency in Children

Doctors rely on various tests to confirm the deficiency and determine the cause:

Transferrin blood level test.
Iron, ferritin, and TIBC tests.
Additional tests depending on the case: liver function tests, total protein, urine analysis, and sometimes genetic tests.

Treatment of Transferrin Deficiency in Children

Treatment depends on the cause and may include:

Addressing the underlying cause: iron deficiency, liver disease, inflammation, or protein loss.
Improving nutrition: foods rich in protein, iron, and essential vitamins like C, B12, and folic acid.
In very rare cases: plasma transfusions or concentrated proteins as instructed by the doctor.
Regular blood tests to monitor the child’s improvement.

Is Transferrin Deficiency Dangerous for Children?

Mild deficiency: usually shows no obvious symptoms.
Moderate to severe deficiency: can cause anemia, growth delays, weakened immunity, and sometimes heart problems.

Types of Transferrin Deficiency in Children

1. Primary Transferrin Deficiency

Very rare and usually genetic.
The child is born with very low transferrin levels due to a defect in the genes responsible for its production.
Can cause severe anemia from birth and growth delays.

2. Secondary Transferrin Deficiency

The most common type, usually caused by health or nutritional problems, such as:

A. Poor nutrition and low protein intake

Caused by insufficient protein in the diet or absorption problems (e.g., celiac disease or other intestinal disorders).

B. Liver diseases

Any liver condition can reduce transferrin production, such as hepatitis, cirrhosis, or certain genetic liver disorders.

Chronic Infections or Long-Term Illnesses

During chronic inflammation, the body reduces transferrin production as part of the inflammatory response.

Abnormal Transferrin Loss

Some chronic kidney diseases cause protein loss in the urine, including transferrin.

Iron-Related Transferrin Deficiency

Chronic iron deficiency can sometimes reduce transferrin levels or affect its function, but usually, the body tries to compensate by increasing transferrin.

Causes of Transferrin Deficiency in Children

Poor Nutrition or Malabsorption

Low protein intake reduces transferrin production because transferrin is made by the liver.
Malabsorption due to conditions like celiac disease or chronic intestinal inflammation can reduce absorption of nutrients needed for transferrin production.

Liver Diseases

The liver is responsible for producing transferrin.
Any liver problem, such as hepatitis, cirrhosis, or certain genetic liver disorders, can lead to transferrin deficiency.

Chronic Inflammation or Long-Term Illnesses

During chronic inflammation or infection, the body reduces transferrin production as part of the immune response.

Iron Deficiency

Chronic iron deficiency can sometimes alter transferrin levels, but usually, the body tries to compensate with higher transferrin.

Rare Genetic Disorders

Some children have genetic defects affecting transferrin or the genes responsible for its production. This is very rare.

Abnormal Protein Loss

Chronic kidney diseases that cause protein loss in urine can reduce transferrin levels.

Symptoms of Transferrin Deficiency in Children

Symptoms are usually linked to anemia or the underlying cause:

Anemia-related symptoms:

Pale skin, especially on the face and lips.
Fatigue and quick exhaustion.
Poor concentration and learning difficulties.
Occasional dizziness or headaches.

Iron deficiency-related symptoms:

Rapid heartbeat or palpitations.
Cold hands and feet.
Brittle nails or nail shape changes.
Craving non-food items (pica), such as dirt or clay.

Malnutrition or liver disease symptoms:

Growth delay relative to age.
Delayed teeth eruption or hair loss.
Abdominal swelling or digestive problems.

Chronic infections or long-term illness symptoms:

Persistent fatigue and weakness.
Recurrent fever or immune problems.

Note: Transferrin deficiency alone is hard to detect without blood tests (transferrin, iron, ferritin, hemoglobin).

Stages of Transferrin Deficiency in Children

Stage 1: Mild Deficiency

Slightly lower transferrin levels, not critical.
Symptoms: mild fatigue during play, slight facial paleness.
Causes: minor protein deficiency or early iron deficiency.

Stage 2: Moderate Deficiency

Noticeable drop in transferrin and anemia symptoms: fatigue, poor concentration, pale skin, mild brittle hair and nails.
Causes: ongoing poor nutrition, liver disease, chronic inflammation.

Stage 3: Severe Deficiency

Very low transferrin levels, severe symptoms:
- Severe anemia and general weakness.
- Physical and mental growth delay.
- Weak immunity and higher risk of infections.
- Sometimes heart problems.
Causes: genetic deficiency, chronic liver disease, major protein loss.

Complications of Transferrin Deficiency in Children

Anemia and Iron Deficiency-Related Problems

Fatigue even with simple activities.
Poor concentration and learning difficulties.
Physical growth delay due to low iron for blood and cell production.
Mental development delay in severe cases.

Immune System Problems

Reduced ability to fight infections.
Children may get frequent colds or digestive infections.

Potential Heart Issues

Severe iron deficiency may cause palpitations or weak heart muscle due to low oxygen supply.

Other Issues

Brittle hair and nails.
Skin problems like paleness and dryness.
Rarely, severe long-term deficiency can affect liver function if caused by liver disease.

Diagnosis of Transferrin Deficiency in Children

1. Clinical Examination

Evaluate growth (height and weight) compared to age norms.
Look for anemia signs: pale skin, poor concentration, fatigue.
Check for liver disease or malnutrition signs.

2. Basic Blood Tests

Transferrin level (main test to confirm deficiency).
Hemoglobin and red blood cell count (to check anemia).
Serum iron and ferritin (to assess iron stores).
Total Iron Binding Capacity (TIBC) to evaluate blood's iron-carrying capacity, usually related to transferrin.

3. Additional Tests (if needed)

Liver function tests if liver disease is suspected.
Total protein and albumin to assess nutrition or protein loss.
Urine protein test if protein loss through kidneys is suspected.
Chronic inflammation tests (CRP or ESR) if ongoing inflammation is suspected.
Rare genetic tests if hereditary transferrin deficiency is suspected.

4. Important Notes

Accurate diagnosis depends on medical history, clinical exam, and lab tests.
Doctors may recommend follow-up and periodic tests to monitor deficiency progression and treatment response.

Treatment of Transferrin Deficiency in Children (Medications & Vitamins)

Treatment usually targets the underlying cause, as there is no direct medication to raise transferrin except in very rare cases.

Medications:

Iron Deficiency Treatment

Oral iron supplements (e.g., Ferrous sulfate or Ferrous gluconate) based on the child’s age and weight.
Periodic blood monitoring for hemoglobin and ferritin improvement.

Liver Disease Treatment

Treat the underlying liver condition (e.g., anti-inflammatory drugs or infection treatment).
Improve nutrition to support liver transferrin production.

Protein Loss via Kidneys

Medications to reduce protein loss or treat the kidney condition.
Regular kidney function monitoring.

Rare Genetic Cases

May include plasma transfusions or concentrated proteins.
Regular follow-up with specialists in genetic or blood disorders.

Nutritional Support

Foods rich in protein and iron.
Combine iron intake with vitamin C to improve absorption.
All treatments must be supervised by a doctor.

Vitamin Support:

Vitamin C – improves iron absorption; found in oranges, kiwi, strawberries, red and green peppers.
Vitamin B12 – supports red blood cell production; found in meat, poultry, fish, eggs, dairy; supplements may be prescribed.
Folic Acid – supports red blood cell production; found in leafy greens, legumes, chickpeas, lentils; supplements may be prescribed for anemia.
Vitamin A & E – support liver health and immunity; found in carrots, sweet potatoes, spinach, nuts, and vegetable oils.

Important Tips for Parents

Supplements and vitamins should always be taken under medical supervision to ensure the correct dosage for the child’s age.
Rely on natural, balanced nutrition as much as possible, using supplements only when necessary.
Combining vitamins with protein-rich foods and improving overall nutrition supports better treatment of transferrin deficiency.

How to Manage Transferrin Deficiency in Children

To manage transferrin deficiency safely and effectively, focus on treating the underlying cause, improving nutrition, and providing continuous medical support. Key tips include:

1. Regular Medical Follow-Up

Monitor transferrin, iron, hemoglobin, and ferritin levels as directed by the doctor.
Conduct periodic blood tests to assess the child’s response to treatment and detect any possible complications.

2. Improve Nutrition

Provide protein-rich foods: meat, poultry, fish, eggs, and dairy.
Include iron-rich foods: liver, red meat, lentils, beans, and spinach.
Combine iron sources with vitamin C to enhance absorption (e.g., orange, red pepper).
Ensure a balanced diet with all essential nutrients to support transferrin production.

3. Treat the Underlying Cause

If caused by iron deficiency: the doctor may prescribe iron supplements.
If caused by liver disease or chronic inflammation: focus on treating the primary condition.
If caused by protein loss through the kidneys: follow kidney disease management as instructed by the doctor.
For rare hereditary cases: specialized medical intervention may be needed, such as plasma transfusions or concentrated proteins.

4. Support Growth and Development

Monitor the child’s weight and height regularly.
Track cognitive and motor development, especially in older children.
Encourage light and balanced physical activity according to the child’s health condition.

5. Prevent Infections

Ensure routine vaccinations are up to date.
Maintain good hygiene and safe food practices to reduce infection risk, as children with transferrin deficiency may have weaker immunity.