Sickle cell disease is a type of haemoglobinopathy, which is a group of genetic blood conditions that affects haemoglobin in red blood cells.^1,2 Red blood cells play an important role in transporting oxygen from the lungs to the other parts of the body, and carbon dioxide from the body to the lungs.³ Haemoglobin is a protein within red blood cells that binds to oxygen and enables the red blood cells to transport the oxygen throughout the body.

Red blood cells are normally round and shaped like a disc, which allows them to flow easily through blood vessels. In sickle cell disease, the red blood cells typically have a crescent or sickle shape, which prevents the cells from flowing properly and can lead to blockage of blood vessels.⁴ The abnormal red blood cells also tend to break down more easily and have a shorter lifespan than normal red blood cells.^5,6 Individuals with sickle cell disease have low levels of red blood cells (anaemia) and not enough oxygen being delivered to body tissues, leading to various symptoms and complications.

In Australia, sickle cell disease has usually been diagnosed after symptoms develop. Sickle cell disease is in the process of being added to Australia’s newborn bloodspot screening (NBS) programs; it is currently available in Victoria and is in the process of being implemented in other states.Ten different types (variants) of sickle cell disease will be detected by the programs. For more information, please visit:

• Australian Government Department of Health, Disability and Ageing: What is screened in the program page
• Australian Government Department of Health, Disability and Ageing: What variants of sickle cell disease, beta-thalassaemia, and other haemoglobinopathies may be detected in Australia’s newborn screening (NBS) programs

Synonyms: SCD; Sickle cell disorder.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:275752 Sickle cell disease

There is no ICD:11 classification.

ICD-10: D57.0 Hb-SS disease with crisis

Please refer to the individual types of sickle cell disease for their specific classifications:

ORPHA:232 Sickle cell anemia

ORPHA:251365 Sickle cell S-C disease

ORPHA:251359 Sickle cell-beta-thalassemia disease syndrome

• ORPHA:695147 Sickle cell-beta plus-thalassemia
• ORPHA:695140 Sickle cell-beta zero-thalassemia

ORPHA:700085 Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant

• ORPHA:251370 Sickle cell S-D Punjab disease
• ORPHA:251375 Sickle cell S-E disease
• ORPHA:699822 Sickle cell S-Lepore disease
• ORPHA:700090 Sickle cell S-O Arab disease
• ORPHA: 700107 Sickle cell S-other specified hemoglobin variant

ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

The symptoms of sickle cell disease vary between individuals and can range from mild to severe.

A characteristic feature of sickle cell disease is the low number of red blood cells (anaemia) and common symptoms may include:^4,7

• extreme tiredness (fatigue)
• pale skin (pallor)
• episodes of pain typically in the chest, bones, stomach, hand and feet, which is also known as sickle cell pain crisis. The pain can be acute (short-term) or chronic (long-term)
• yellowing of eyes and skin (jaundice)
• increased risk of infections
• delayed growth

Sickle cell disease can also cause damage to various organs and lead to complications such as high blood pressure in the blood vessels to the lungs (pulmonary hypertension), heart failure and increased risk of stroke.^1,4

There may be other symptoms and complications of sickle cell disease that have not been listed here. Please speak to your medical team to learn more about the symptoms and complications of sickle cell disease.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Sickle cell disease is a genetic condition. It is caused by disease-causing genetic changes (variants) in the haemoglobin beta (HBB) gene located on chromosome 11.⁷

All individuals have two copies (alleles) of the HBB gene – one inherited from each parent. Sickle cell disease is an autosomal recessive condition, which means both copies of the HBB gene must have the disease-causing genetic variants. Individuals with sickle cell disease will have at least one copy of the haemoglobin S variant (Hb S). The type of sickle cell disease will depend on the other disease-causing variant, which could be another Hb S copy or other variants like Hb C, Hb β-thalassaemia, Hb D, Hb E, Hb O, Hb Lepore, Hb δβ-thalassaemia, Hb HPFH and others.⁷  If individuals do not have the Hb S variant but have two copies of other disease-causing variants, they will not have sickle cell disease but will have another type of haemoglobinopathy.

Individuals with one normal copy of the HBB gene (known as Hb A) and one copy of the disease-causing Hb S variant will not have sickle cell disease and are typically healthy but are carriers (also known as having sickle cell trait).⁴ They may pass on that variant to their children. If both parents are carriers (each have a copy of the Hb S variant), there is a 25% chance the child will inherit both disease-causing variants and have sickle cell disease. More information on autosomal recessive inheritance pattern can be found at Centre for Genetics Education: Autosomal recessive inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

In Australia, sickle cell disease is usually diagnosed after symptoms develop and involve testing of blood samples to look for haemoglobin S (Hb S) and the other haemoglobin types. More information can be found at Pathology Tests Explained: Sickle cell.

Diagnosis of sickle cell disease is usually confirmed by genetic testing to identify disease-causing genetic variants in the HBB gene and the type of sickle cell disease. Genetic testing may also be used to identify individuals who are carriers.⁵

Sickle cell disease is in the process of being added to Australia’s newborn bloodspot screening (NBS) programs. For more information about the program, the status of implementation of sickle cell disease screening in different states, and the 10 different types (variants) of sickle cell disease that will be detected by the program, please visit:

• Australian Government Department of Health, Disability and Ageing: What is screened in the program page
• Australian Government Department of Health, Disability and Ageing: What variants of sickle cell disease, beta-thalassaemia, and other haemoglobinopathies may be detected in Australia’s newborn screening (NBS) programs

Please speak to your medical team to learn more about the available pathways for diagnosis of this condition.

Treatment of sickle cell disease is focussed on managing symptoms (symptomatic management) and preventing complications, which involves a multidisciplinary care team. This may include pain management, medication such as hydroxyurea that increases foetal haemoglobin levels (Hb F) and prevent formation of sickle-shaped cells, and regular blood transfusions to manage anaemia and reduce risk of complications.^2,8 In some cases, bone marrow or stem cell transplant may be an option and could be curative.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Healthcare professionals involved in the care of individuals with sickle cell disease may include general practitioners (GP), paediatricians, haematologists, geneticists, genetic counsellors, nephrologists, hepatologists and others.⁷ The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Thalassaemia and Sickle Cell Australia lists information about blood transfusion centres across Australia on their Support > Health Professionals > Treatment Centres pages.

Australian Sickle Cell Advocacy Inc.: Australian Treatment Centres lists Australian treatment centres, which can be filtered by state.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

For individuals living with persistent or chronic pain, care pathways may include referral to pain clinics or pain management services. Palliative care services also provide resources, support and tools to help people manage their pain, and may be relevant for some people living with chronic pain. Please speak to your GP about the suitability and possibility of referral to these services.

Individual hospitals may have clinical practice guidelines for managing patients with sickle cell disease. Please refer to the specific hospital clinical practice guidelines where relevant.

Royal Australian College of General Practitioners (RACGP): Haemoglobinopathies provide some guidelines for general practitioners (GP) around identifying potential carriers of haemoglobinopathies.

The following recommendations is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• American Society of Hematology: Clinical Practice Guidelines on Sickle Cell Disease
• WHO recommendations on the management of sickle-cell disease during pregnancy, childbirth and the interpregnancy period; published in 2025
• Newborn screening for sickle cell disease in Europe: Recommendations from a pan-European consensus conference; published in 2018

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

Individual hospitals may have emergency management guidelines for managing individuals living with sickle cell disease at emergency departments/services, including those presenting in sickle cell crisis. Please refer to the specific hospital emergency management guidelines where relevant.

Haemoglobinopathy Registry (HbR) is a clinical registry run by Monash University and is a collaborative initiative of specialist centres collating and analysing data on patients with haemoglobin disorders. Sickle cell disease in Australia: a snapshot from the Australian Haemoglobinopathy Registry was published in 2023 and provides a snapshot of sickle cell disease in Australia over a 12-month period based on data from the HbR.

Thalassaemia International Foundation (TIF): Scientific literature lists selected and regularly updated scholarly publications of original empirical and theoretical work on thalassaemia and sickle cell disease (SCD), presented in chronological order.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries. For more information, please visit the RARE Portal’s Considerations for Participating in Health and Medical Research page.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in research, including clinical trials,  with your medical team to determine suitability and eligibility.

Australian Organisations:
Australian Sickle Cell Advocacy Inc.
Website: https://aussicklecelladvocacy.org/
Australian Sickle Cell Advocacy Inc. (ASCA) is an advocacy and support organisation based in Australia that works to raise awareness about sickle cell disease (SCD) and improve the lives of individuals affected by this condition.

Thalassaemia and Sickle Cell Australia
Website: https://www.tasca.org.au/
Thalassaemia and Sickle Cell Australia (TASCA) is a support and advocacy organisation for Australians living with genetic haemoglobin conditions.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Sickle cell disease varies between individuals, and each person’s experience is unique.

Personal story shared with RVA: Peter’s Story.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Thalassaemia and Sickle Cell Australia: Support Resources has information about various types of support for individuals with sickle cell anaemia.

Australian Sickle Cell Advocacy Inc.: Family Support Groups / Networks

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Australian Sickle Cell Advocacy Inc. offers mental health support tailored for people with sickle cell disease in Australia and is culturally and linguistically diverse. More information can be found at Australian Sickle Cell Advocacy Inc.: ASCA Mental Health Support.

Further information on sickle cell disease can be found at:

• Centre for Genetics Education: Sickle cell disease
• National Organization for Rare Disorders (NORD): Sickle cell disease
• Australian Sickle Cell Advocacy Inc.: Sickle cell resources and links – includes educational brochures available in multiple languages

 Other relevant resources about sickle cell anaemia can be found at:

• HealthDirect: Sickle cell anaemia
• Thalassaemia and Sickle Cell Australia: Sickle Cell Anaemia has factsheets in many different languages
• Genetic and Rare Diseases (GARD) Information Center: Hb SS disease

Royal Australian College of General Practitioners (RACGP): Haemoglobinopathies

GeneReviews®: Sickle cell disease

Orphanet: Sickle cell disease

Thalassaemia International Foundation (TIF): TIF publications lists publications on thalassaemia and sickle cell disease, many of which have been and are still used as reference texts for academics, healthcare professionals, patient support organisations and individual patients. TIF is a non-governmental, patient-driven umbrella organisation, established in 1986 and founded by a small group of doctors and patients/parents who represented national patient associations. They work with over 200 national thalassaemia associations in 67 countries across the world.

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with  Australian Sickle Cell Advocacy Inc. and Thalassaemia and Sickle Cell Australia.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.