Immune Disorders 

• Cartilage-Hair Hypoplasia

• Gunther’s Disease (Erythropoietic Porphyria)

• Hermansky-Pudlak Syndrome

• Pearson’s Syndrome

• Shwachman-Diamond Syndrome

• Systemic Mastocytosis

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Metabolic Disorders

• Mucopolysaccharidosis (MPS) Storage Diseases

  • Hurler Syndrome (MPS-IH)

  • Scheie Syndrome (MPS-IS)

  • Hunter Syndrome (MPS-II)

  • Sanfilipp Syndrome (MPS-III)

  • Morqui Syndrome (MPS-IV)

  • Maroteaux-Lamy Syndrome (MPS-VI)

• Sly Syndrome, Beta-Glucuronidase Deficiency (MPS-VII)

  • Mucolipidosis II (I-cell Disease)

• Leukodystrophy Disorders

  • Adrenoleukodystrophy (ALD) / Adrenomyeloneuropathy (AMN)

  • Krabbe Disease (Globoid Cell Leukodystrophy)

  • Metachromatic Leukodystrophy

  • Pelizaeus-Merzbacher Disease

• Lysosomal Storage Diseases

  • Niemann-Pick Disease

  • Sandhoff Disease

  • Wolman Disease

• Inherited Disorders–Other

  • Lesch-Nyhan Syndrome

  • Osteopetrosis

Cancers

• Neuroblastoma

• Retinoblastoma

• Medulloblastoma

Leukemias

• Acute Lymphoblastic Leukemia (ALL)

• Acute Myelogenous Leukemia (AML)

• Acute Biphenotypic Leukemia

• Acute Undifferentiated Leukemia

• Chronic Myelogenous Leukemia (CML)

• Juvenile Chronic Myelogenous Leukemia (JCML)

• Juvenile Myelomonocytic Leukemia (JMML)

• Chronic Lymphocytic Leukemia (CLL)

Myelodyplastic Syndromes

• Refractory Anemia

• Refractory Anemia with Ringed Sideroblasts

• Refractory Anemia with Excess Blasts

• Refractory Anemia with Excess Blasts in Transformation

• Chronic Myelomonocytic Leukemia (CMML)

Lymphomas

• Hodgkin’s Lymphoma

• Non-Hodgkin’s Lymphoma (Burkitt’s Lymphoma)

Blood Disorders 

• Anemias

  • Aplastic Anemia

  • Congenital Dyserythropoietic Anemia

  • Fanconi Anemia

  • Paroxysmal Nocturnal Hemoglobinuria (PNH)

• Inherited Red Cell (Erythrocyte) Abnormalities

  • Beta Thalassemia Major (also known as Cooley’s Anemia)

  • Diamond-Blackfan Anemia

  • Pure Red Cell Aplasia

  • Sickle Cell Disease

• Inherited Platelet Anomalies

  • Amegakaryocytosis / Congenital Thrombocytopenia

  • Glanzmann Thrombasthenia

• Immune System Disorders: Severe Combined Immunodeficiency (SCID)

  • SCID with Adenosine Deaminase Deficiency(ADA-SCID)

  • SCID which is X-linked

  • SCID with absence of T & B Cells

  • SCID with absence of T Cells, Normal B Cells

  • Omenn Syndrome

•  Immune System Disorders: Neutropenias

  • Infantile Genetic Agranulocytosis (Kostmann Syndrome)

  • Myelokathexis

Blood Disorders cont. ​

• Inherited Immune System Disorders–Other

  • Ataxia-Telangiectasia

  • Bare Lymphocyte Syndrome

  • Common Variable Immunodeficiency

  • DiGeorge Syndrome

  • Leukocyte Adhesion Deficiency

  • Lymphoproliferative Disorders

  • Lymphoproliferative Disorder, X-linked (also known as Epstein-Barr Virus Susceptibility)

  • Wiskott-Aldrich Syndrome

• Myeloproliferative Disorders

  • Acute Myelofibrosis

  • Agnogenic Myeloid Metaplasia (Myelofibrosis)

  • Polycythemia Vera

  • Essential Thrombocythemia

• Phagocyte Disorders

  • Chediak-Higashi Syndrome

  • Chronic Granulomatous Disease

  • Neutrophil Actin Deficiency

  • Reticular Dysgenesis

• Cancers in the Bone Marrow

  • Multiple Myeloma

  • Primary Plasma Cell Leukemia (PCL)

  • Secondary Plasma Cell Leukemia PCL)

  • Waldenstrom’s MacroglobulinemiaI