Questions 449: Specify the inherited bone marrow failure syndrome classification

Indicate the inherited bone marrow failure syndrome classification of the primary disease for infusion.

  • Diamond-Blackfan anemia: A rare genetic disorder that affects the ability of the marrow from producing red blood cells. These recipients may present with anemia but may also exhibit physical abnormalities such as: small head size, cleft lip, webbed neck, defects of the hands and a short stature.

If Diamond-Blackfan anemia is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, the Aplastic Anemia Pre- and Post-Infusion (2028 / 2128) forms will come due.

  • Dyskeratosis congenita: A genetic form of a bone marrow failure where the recipient is unable to produce sufficient blood cells. Subdivisions of dyskeratosis congenita includes dyskeratosis congenita (autosomal dominant), Scoggins type, dyskeratosis congenita (autosomal recessive), dyskeratosis congenita (X-linked), Zinsser-Cole-Engleman syndrome, Hoyeraal-Hreidarsson syndrome, and Revesz syndrome.

If Dyskeratosis congenita is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, the Aplastic Anemia Pre- and Post-Infusion (2028 / 2128) forms will come due.

  • Fanconi anemia: A rare genetic blood disorder that prevents the body from producing a sufficient number of new blood cells to function properly. Abnormal blood cells may also be produced. These recipients are short in stature, exhibit skeletal abnormalities, and have an increased risk of developing solid tumors, MDS, and leukemias.

If Fanconi anemia is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, the Fanconi Pre- and Post-Infusion (2029 / 2129) forms will come due.

  • Severe congenital neutropenia: A rare group of disorders that are characterized by neutropenia. These disorders are present at birth. Kostmann syndrome is included in this disease classification.

If Severe congenital neutropenia is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, no disease specific forms will come due.

  • Shwachman-Diamond syndrome: A rare autosomal recessive disorder which is characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities.

If Shwachman – Diamond is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, the Aplastic Anemia Pre- and Post-Infusion (2028 / 2128) forms will come due.

Question 450: Did the recipient receive gene therapy to treat the inherited bone marrow failure syndrome?

Indicate if the recipient received a gene therapy to treat the inherited bone marrow failure syndrome. If the recipient received a gene therapy, indicate Yes. The Cellular Therapy Product (4003) Form and Cellular Therapy Infusion (4006) Form will also come due to collect more information regarding this gene therapy.

Last modified: Oct 23, 2020

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