Pediatric Anemia and Hematologic Disorders

Flashcards covering core terminology, clinical conditions, and therapeutic concepts related to pediatric anemia and pediatric hematological disorders based on the lecture text.

Hemoglobin

A protein in red blood cells that enables them to carry oxygen from the lungs to other cells throughout the body.

Iron Deficiency Anemia (IDA)

The most common type of anemia in children, caused by insufficient iron needed to produce hemoglobin.

Megaloblastic Anemia

A form of anemia in which red blood cells become abnormally large due to a lack of folic acid or vitamin B-12.

Pernicious Anemia

A specific type of megaloblastic anemia caused by a defect in absorbing vitamin B-12.

Hemolytic Anemia

Anemia resulting from the destruction of red blood cells, often caused by serious infections or certain medications.

Sickle Cell Anemia

An inherited hemoglobinopathy caused by a mutation in the $\beta$-globin gene substituting glutamic acid for valine, resulting in rigid, crescent-shaped red blood cells.

Cooley's Anemia

Also known as beta thalassemia major, an inherited disorder where neither beta-globin gene works properly, leading to severe anemia requiring regular transfusions.

Aplastic Anemia

A condition characterized by bone marrow failure, resulting in insufficient production of red blood cells, white blood cells, and platelets.

Pica

A symptom of iron-deficiency anemia characterized by a craving to consume unusual non-food items such as dirt or ice.

Iron-Refractory Iron-Deficiency Anemia (IRIDA)

A rare inherited form of iron deficiency caused by a genetic mutation that prevents normal iron utilization, often requiring regular intravenous iron infusions.

Thalassemia

An inherited blood disorder causing reduced hemoglobin production due to genetic defects in alpha- or beta-globin chains.

Thalassemia Minor

Also called thalassemia trait, a mild form of thalassemia where two alpha-globin genes or one beta-globin gene is missing or damaged, usually causing minimal to no symptoms.

Alpha-Thalassemia Major

The most severe form of alpha-thalassemia where all four alpha-globin genes are missing, leading to severe fetal complications or hydrops fetalis.

Non-Transfusion Dependent Thalassemia (NTDT)

Forms of thalassemia, such as thalassemia intermedia, where patients have impaired globin genes but do not require regular lifelong blood transfusions to survive.

Iron Chelation Therapy

Treatment using medications like deferasirox, deferiprone, or deferoxamine to remove excess iron accumulation resulting from frequent blood transfusions.

Zynteglo®

An FDA-approved gene therapy (beti-cel) for transfusion-dependent beta thalassemia that uses a self-inactivating lentivirus to add functional beta-globin genes to stem cells.

Casgevy

An FDA-approved gene therapy (exa-cel) utilizing CRISPR editing of the BCL11A gene to boost fetal hemoglobin production in patients aged 12 and older with beta thalassemia.

Fanconi Anemia (FA)

A rare inherited disease marked by impaired cellular DNA repair, resulting in bone marrow failure, physical abnormalities, and an increased risk of cancer.

Diamond-Blackfan Anemia (DBA)

A rare blood disorder characterized by the specific failure of the bone marrow to produce red blood cells.

Dactylitis

Severe, painful swelling of the hands and feet commonly seen in infants with sickle cell anemia.

Neutrophils

A key type of white blood cell responsible for defending the body against bacterial and fungal infections.

Mean Corpuscular Volume (MCV)

A measure of the average volume of red blood cells, with a normal standard reference range of $80-100\,\mu\text{m}^3$.

Peripheral Smear

A diagnostic procedure where a drop of blood is examined under a microscope to inspect the morphology, size, and structure of blood cells.