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Blood and immune system diseases

Severe congenital neutropenia (SCN)

A blood disease present from birth. There are very few white blood cells called neutrophils in the blood. Because of this, frequent infections begin in infancy.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French, German, Spanish, Italian). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Blood and immune system diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Neutrophils are white blood cells that fight germs, and they are made in the bone marrow. In this disease, neutrophils either cannot mature or die quickly. Their number in the blood stays very low. The body is left unprotected against bacteria.

Which symptoms can occur?

Symptoms begin at birth or shortly after. They may include:

  • Frequent and severe bacterial infections (common)
  • Repeated fevers
  • Gum inflammation and mouth sores
  • Sinus, ear and throat infections
  • Bone thinning (about 4 in 10)
  • A tendency to develop blood diseases such as leukemia later in life (about 1 in 5)

How is it diagnosed?

A blood count shows a very low number of neutrophils. A sample of bone marrow is taken and examined. A genetic test looks for the gene causing the disease; multi-gene panels are used for this.

Treatment and care

Infections are treated quickly with antibiotics. The main treatment is a growth factor that stimulates the bone marrow to make neutrophils. Good mouth and dental care is important. Measures such as hand washing reduce infections. If a suitable donor is available, a bone marrow transplant can cure the disease. Regular follow-up is needed because of the risk of blood diseases. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease can be caused by many different genes. When it is linked to the ELANE gene, it is passed on in a dominant way; for each child of an affected parent, the chance is 1 in 2. With genes such as HAX1, inheritance is recessive. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. Recessive diseases may be more common when parents are related by blood. Rarely, it is X-linked. Genetic counselling clarifies how the disease is passed on.

Source: MedlinePlus Genetics: Severe congenital neutropenia · NORD: Severe Chronic Neutropenia

Key facts

How common is it?
Prevalence: 1-9 per 1 000 000 (Europe)
When does it usually start?
Childhood

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Congenital neutropenia

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 3 active interventional studies for this disease. 2 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Blood and immune system diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:42738

No matching ICD-11 entry was found.

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.