What are the diseases like sickle cell disease?

September 25, 2025 •

4 min read

Sickle cell disease is one of several inherited blood disorders, known as hemoglobinopathies, that affect the body's hemoglobin protein. These conditions share similarities in their genetic roots and impact on red blood cells, but differ in their specific mechanisms and severity. Understanding what are the diseases like sickle cell disease provides crucial insight into a broader category of serious hematological issues.

Quick Summary

Diseases similar to sickle cell disease are primarily inherited blood disorders like thalassemias and aplastic anemia, which disrupt hemoglobin production or red blood cell function. Other related conditions, such as hemoglobin C disease, also fall under the umbrella of hemoglobinopathies, causing various forms of anemia and potential complications.

Key Points

Thalassemia is a key relative: Like sickle cell, thalassemia is an inherited blood disorder affecting hemoglobin, but it involves the reduced or absent production of hemoglobin chains, not just a shape change.
Combined disorders exist: Some people inherit a gene for sickle cell and another hemoglobinopathy, such as thalassemia or hemoglobin C disease, which can lead to a range of symptoms from mild to severe.
Sickle cell is a hemoglobinopathy: Sickle cell disease and thalassemia both fall under the broad category of hemoglobinopathies, inherited single-gene disorders affecting the hemoglobin protein in red blood cells.
Aplastic anemia is different: While also causing severe anemia-like symptoms, aplastic anemia is a bone marrow failure disorder, distinct from the hemoglobin-specific issues of sickle cell disease.
Genetic counseling is important: Due to their inherited nature, genetic counseling is a key resource for families with a history of sickle cell or related blood disorders to understand their risks.
Complications overlap: Though the root causes differ, conditions like thalassemia and aplastic anemia can share symptoms like fatigue, jaundice, and organ damage, similar to sickle cell disease.

Understanding Inherited Blood Disorders

Inherited blood disorders, also known as hemoglobinopathies, affect the red blood cells' ability to carry oxygen throughout the body. While sickle cell disease (SCD) is a well-known example, numerous other conditions share genetic links and symptomatic similarities. These diseases are passed down from parents and can range from mild traits with few symptoms to severe, life-threatening conditions requiring ongoing medical care.

Thalassemias: A Primary Relative

Thalassemia is arguably the most similar and most common group of genetic blood disorders to SCD. Like sickle cell, it affects the hemoglobin in red blood cells. However, instead of producing malformed hemoglobin (HbS), thalassemia results from a body's reduced or absent production of hemoglobin chains. This causes anemia, as the red blood cells cannot carry oxygen efficiently.

There are two main types of thalassemia, based on which protein chain is affected:

Alpha-Thalassemia: Involves defects or missing genes in the alpha-globin chain. The severity depends on the number of genes affected. A severe form, known as Hemoglobin H disease, can lead to moderate to severe anemia, while the most severe form can be fatal at birth.
Beta-Thalassemia: Affects the beta-globin chain. Beta-thalassemia minor is a milder form, while beta-thalassemia major (Cooley's Anemia) can cause severe anemia and growth issues in infants.

Combined Hemoglobinopathies

It is possible to inherit genes for both sickle cell disease and another hemoglobinopathy. These combined disorders can produce unique clinical outcomes, some of which are very similar to classic SCD.

Hemoglobin SC Disease: Occurs when a person inherits a sickle cell gene (HbS) from one parent and a hemoglobin C gene (HbC) from the other. This typically results in a milder form of SCD but can still lead to painful episodes, though these are less frequent and less severe than in HbSS.
Sickle Beta-Thalassemia: Involves inheriting a sickle gene from one parent and a beta-thalassemia gene from the other. The severity varies depending on the specific beta-thalassemia gene inherited, with one version being severe (HbS beta0-thalassemia) and another being milder (HbS beta+-thalassemia).

Other Anemias with Similar Symptoms

While not hemoglobinopathies, other conditions can cause severe anemia and share some overlapping symptoms with sickle cell disease.

Aplastic Anemia: This is a rare, life-threatening condition where the bone marrow fails to produce enough new red blood cells, white blood cells, and platelets. Unlike sickle cell, it is not always genetic, though it can sometimes be caused by autoimmune diseases or chemical exposures. The resulting severe fatigue, frequent infections, and bleeding issues can be similar to aspects of SCD.
Hemolytic Anemia: This is a group of disorders where red blood cells are destroyed faster than the bone marrow can replace them. Sickle cell disease is a type of hemolytic anemia, but other causes, such as autoimmune disorders or infections, can also lead to this condition.

How to Differentiate: A Comparison Table

To clarify the distinctions, the table below compares key features of Sickle Cell Disease and some related conditions.


Feature	Sickle Cell Disease (HbSS)	Beta-Thalassemia Major	Aplastic Anemia	Hemoglobin SC Disease
Cause	Inheriting two HbS genes	Inheriting two beta-thalassemia genes	Bone marrow failure; can be inherited, autoimmune, or drug-related	Inheriting one HbS and one HbC gene
Red Blood Cell Issue	Cells sickle under low oxygen, blocking vessels	Insufficient production of beta-globin chains, causing reduced hemoglobin	Low production of all blood cells	Milder sickling; cells contain HbS and HbC
Symptom Severity	Severe; chronic pain crises, fatigue, organ damage	Severe; can cause fatigue, growth issues, bone deformities, and iron overload	Severe; fatigue, frequent infections, bruising	Milder than HbSS, but with similar potential complications, such as pain
Treatment	Pain management, hydroxyurea, blood transfusions, potential gene therapy	Regular blood transfusions, iron chelation	Bone marrow transplant, immunosuppressants	Monitoring, pain management for crises
Common Ancestry	African, Mediterranean, Middle Eastern, South Asian	Mediterranean, Middle Eastern, South Asian	Wide-ranging, can be non-genetic	African, Caribbean

Living with and Managing These Conditions

Managing inherited blood disorders requires proactive medical care and a focus on preventing complications. For severe conditions like SCD and major thalassemia, regular blood transfusions and medications to manage symptoms are often necessary. For milder conditions, monitoring and lifestyle adjustments may be sufficient. Genetic counseling is also a critical component for families with a history of these diseases.

For more information on the complexities of blood disorders, a comprehensive resource can be found on the American Society of Hematology website. This organization provides expert-level details on many hematological conditions.

Conclusion

While sickle cell disease is a unique and challenging condition, it is not an isolated one. It belongs to a family of genetic blood disorders, most notably the thalassemias, that affect hemoglobin and red blood cells. The symptoms and severity can overlap, but the underlying genetic cause and physiological mechanism differ. Accurate diagnosis is essential for effective management and can be determined through specific blood tests. By raising awareness of these related conditions, we can better support affected individuals and families and push for continued research into effective treatments and potential cures.

Frequently Asked Questions

No, thalassemia and sickle cell disease are not the same, but they are both genetic blood disorders known as hemoglobinopathies. Thalassemia involves the body producing an insufficient amount of normal hemoglobin, while sickle cell disease causes hemoglobin to form abnormally, deforming red blood cells.

Yes, it is possible to inherit a gene for sickle cell from one parent and a gene for thalassemia from the other. This results in a combined disorder called sickle beta-thalassemia, which can have varying levels of severity.

Hemoglobin SC disease is a form of sickle cell disease that occurs when a person inherits one gene for hemoglobin S (sickle cell) and one gene for hemoglobin C. It is generally a milder form of the disease than the most common type, HbSS.

Aplastic anemia is distinct from sickle cell disease because it is a disorder of bone marrow failure, where the marrow stops producing enough new blood cells. Sickle cell disease, in contrast, is a genetic defect in the hemoglobin protein itself.

Diagnosis of these disorders typically involves blood tests, such as a complete blood count (CBC), hemoglobin electrophoresis to identify the specific type of hemoglobin present, and genetic testing.

Risk factors are primarily linked to ancestry, as the genetic mutations are more common in certain populations. For example, SCD is common among those of African, Mediterranean, Middle Eastern, and Indian descent, while thalassemia is prevalent in Mediterranean, Asian, and African populations.

For some severe forms, a bone marrow transplant or hematopoietic stem cell transplant can offer a potential cure. Gene therapy is an active area of research for many of these disorders. Other treatments focus on managing symptoms and preventing complications.