Disorders of Blood & Immunity

Genetically-driven blood disorders are a group of inherited diseases that affect the blood and bone marrow, which can be passed down from parent to child. These disorders can include abnormalities in the composition or components of non-immune blood cells such as platelets or red blood cells (RBCs). They include genetic abnormalities affecting hemoglobin (the protein that carries oxygen in RBCs), such as sickle cell anemia and thalassemia, or enzymatic abnormalities of RBCs, such as glucose-6-phosphate dehydrogenase deficiency. Disorders can also be due to abnormalities of platelet number and/or function, as well as incertain blood coagulation factors or clotting proteins, such as hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency). These lead to problems with bleeding and/or clotting.

Inherited bone marrow disorders can result from genetic changes in the bone marrow, such as hereditary myeloproliferative disorders and inherited bone marrow failure syndromes, which can be associated with an increased risk for cancer and aplastic anemia when the bone marrow is not able to produce enough red blood cells, white blood cells and platelets. Some of these rare blood and bone marrow disorders affect multiple organ systems and carry significant health concerns associated with pain crises, stroke and ocular, lung, liver, spleen and kidney diseases, as well as an increased risk for infections.

Genetic disorders of the skin include a broad spectrum of disorders caused by alterations in different genes that affect the skin, but they can also be associated with abnormalities of other organ systems. Some rare skin disorders involve thickening of the skin throughout the body (limiting joint mobility), sun sensitivity, abnormalities of the nervous system, growth restriction, hearing loss, inflammatory and ocular problems, as well as an increased risk for the development of malignancies.

Genetically-driven disorders of immunity may include known primary immunodeficiencies, immune regulatory and systemic autoinflammatory disorders. They can also be associated with any combination of immunodeficiency, autoinflammation, autoimmunity, allergy, lymphoproliferation, cancer and/or susceptibility to infection. Patients may have trouble defending against a broad or narrow spectrum of infections, may find that their immune systems are attacking their own organs, and/or creating inflammation even when there is no infectious reason for it. These may lead to medical problems that affect any organ system, including associated clinical problems such as type 1 diabetes (T1DM), interstitial lung disease (ILD), inflammatory bowel disease (IBD), autoimmune hepatitis, cardiomyopathy, glomerulonephritis, vasculitis, or systemic lupus erythematosus (SLE).

Receiving a diagnosis of a disorder of blood and immunity, or being at risk for or suspected of having one, can feel overwhelming, but learning more about the diagnosis can help you navigate treatment and care. Visit the links below to learn more about some of the different types of rare disorders, their causes, and associated symptoms as well as screening and treatment options. This list includes a selection of disorders of blood and immunity. Schedule a consultation with us for diagnosis and treatment options for these or any other rare conditions.