Cord Blood Cord Blood Diseases and Treatments 2 — Questions and Answers
Question 1: What is severe aplastic anemia and how is cord blood transplantation used in its treatment?
- A clotting disorder treated with cord blood as a blood substitute
- Bone marrow failure with severely reduced blood cell production, treated with cord blood transplant to replace the failed marrow (Correct answer)
- A red blood cell enzyme deficiency
- An overproduction of white blood cells
Correct answer: Bone marrow failure with severely reduced blood cell production, treated with cord blood transplant to replace the failed marrow
Severe aplastic anemia is characterized by pancytopenia due to bone marrow failure; cord blood transplantation replaces the failed hematopoietic system with functional donor stem cells.
Question 2: Which severe combined immunodeficiency (SCID) disorder is commonly treated with cord blood transplantation?
- Common variable immunodeficiency (CVID)
- Adenosine deaminase deficiency (ADA-SCID) (Correct answer)
- Selective IgA deficiency
- X-linked agammaglobulinemia
Correct answer: Adenosine deaminase deficiency (ADA-SCID)
ADA-SCID, caused by adenosine deaminase enzyme deficiency, leads to profound immune failure; cord blood transplantation can restore immune function by engrafting healthy donor stem cells.
Question 3: What is Hurler syndrome (MPS I) and why is early cord blood transplantation critical?
- A growth hormone deficiency; transplant replaces pituitary cells
- A lysosomal storage disorder caused by alpha-L-iduronidase deficiency; early transplant halts neurological deterioration before irreversible damage occurs (Correct answer)
- A clotting factor disorder treated with factor replacement
- A mitochondrial disease with no proven treatment
Correct answer: A lysosomal storage disorder caused by alpha-L-iduronidase deficiency; early transplant halts neurological deterioration before irreversible damage occurs
Hurler syndrome is a severe mucopolysaccharidosis caused by enzyme deficiency leading to progressive organ and brain damage; cord blood transplantation before age 2 can significantly slow neurological deterioration.
Question 4: What is myelodysplastic syndrome (MDS) and how is cord blood transplantation used?
- An autoimmune disease treated with steroids alone
- A clonal bone marrow disorder with abnormal blood cell production and risk of leukemic transformation, treated with cord blood transplant for eligible patients (Correct answer)
- A platelet production excess disorder
- A viral infection of the bone marrow
Correct answer: A clonal bone marrow disorder with abnormal blood cell production and risk of leukemic transformation, treated with cord blood transplant for eligible patients
MDS is a heterogeneous group of clonal marrow disorders with ineffective hematopoiesis and leukemic transformation risk; allogeneic cord blood transplantation offers curative potential for eligible patients.
Question 5: What is Diamond-Blackfan anemia and what role does cord blood transplantation play?
- An iron overload disorder; cord blood is not used
- A congenital pure red blood cell aplasia caused by ribosomal gene mutations, with cord blood transplant offering a cure for steroid-refractory cases (Correct answer)
- A white blood cell cancer; cord blood provides chemotherapy
- A platelet disorder; cord blood replaces megakaryocytes
Correct answer: A congenital pure red blood cell aplasia caused by ribosomal gene mutations, with cord blood transplant offering a cure for steroid-refractory cases
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome causing severe anemia; allogeneic cord blood transplantation is a curative option for patients who do not respond to corticosteroid therapy.
Question 6: Which rare inherited neutrophil disorder characterized by severe congenital neutropenia is treated with cord blood transplantation?
- Chronic granulomatous disease only
- Kostmann syndrome (severe congenital neutropenia) (Correct answer)
- Myeloperoxidase deficiency
- Lazy leukocyte syndrome
Correct answer: Kostmann syndrome (severe congenital neutropenia)
Kostmann syndrome is a severe congenital neutropenia caused by HAX1 or ELANE mutations; cord blood transplantation is curative by replacing the defective neutrophil-producing stem cells.
Cord Blood Cord Blood Diseases and Treatments 2
What is severe aplastic anemia and how is cord blood transplantation used in its treatment?