Association of Haemophilia with Down Syndrome

Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding. Hemophilia B presenting in association with Down’s syndrome is quite rare. We report a case of a one month old child who presented to us with continuous unexplained bleeding.J Nepal Paediatr Soc 2016;36(1):75-77.

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A Hemophilia Disorder Review: Gene Therapy for Hemophilia B Treatment using rAAV vectors

Bionatura ◽

10.21931/rb/cs/2019.02.01.16 ◽

2019 ◽

Vol 02 (Bionatura Conference Serie) ◽

Author(s):

Abad Gallardo Claudia Sofía ◽

Merchán Muñoz Brian David

Keyword(s):

Gene Therapy ◽

Blood Clotting ◽

Hemophilia A ◽

Factor Ix ◽

Hemophilia B ◽

Clotting Factor ◽

Adeno Associated Virus ◽

Long Term Effect ◽

Blood Clotting Factor

Hemophilia is an X-linked recessive disorder characterized by the deficiency in one protein essential for blood coagulation. There are two main types of variants of this disease; hemophilia A (HA) which is related with blood clotting factor VIII (FVIII) deficiency and hemophilia B (HB) which is related with factor IX (FIX) deficiency. Nowadays, there are several options to treat this disorder, however, the most efficient is gene therapy since it has a long-term effect, and contrasts with traditional methods. This review is focused on hemophilia B treatment because FIX is a smaller protein than FVIII (<1kb), and thereby is easier to study. Within gene therapy, methods which use recombinant adeno-associated virus (rAAV) vectors are the best alternative to treat HB since they are safe and reliable. Moreover, rAAV vectors have the advantage of having a low inflammatory potential, a non-pathogenic status, plus the potential for long-term expression of the transferred gene. However, some patients showed an immune response to the capsids of the vectors before treatment. Hence, possible solutions were needed; one of them being the use of anti-antibodies. Finally, clinical trials results showed that under the use of the optimized codon hFIXco and serotype 8 the levels of expression were persistent, demonstrating the potential of gene therapy for hemophilia B treatment.

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Prospects for the use of prolonged concentrates of blood clotting factor IX in the treatment of hemophilia B

Russian Journal of Pediatric Hematology and Oncology ◽

10.21682/2311-1267-2020-7-4-56-61 ◽

2021 ◽

Vol 7 (4) ◽

pp. 56-61

Author(s):

V. N. Konstantinova ◽

T. A. Andreeva ◽

A. V. Kim

Keyword(s):

Blood Clotting ◽

Patient Adherence ◽

Coagulation Factor ◽

Hereditary Disease ◽

Factor Ix ◽

Hemophilia B ◽

Clotting Factor ◽

Clotting System ◽

Molecular Abnormalities ◽

Blood Clotting Factor

Hemophilia B is a hereditary disease of the blood clotting system caused by a deficiency or molecular abnormalities of blood clotting factor IX. The main method of treatment is intravenous administration of coagulation factor IX concentrates. To optimize treatment and increase patient adherence to therapy, concentrates with a prolonged half-life have been developed.

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