Hematology

• Hereditary Hemorrhagic Telangiectasia (HHT) is also known as Osler-Weber-Rendy disease or syndrome and is associated with the formation of abnormal blood vessels in the mucous membrane, body organs and skin. This condition is a rare genetic condition that is associated with autosomal dominant inheritance. It is caused by variations in the genes that are associated with developing the connection between the arteries and the veins – arteriovenous malformations (AVM). the severity of this condition can vary greatly within individuals in the population and in the family. One of the main characteristics of HHT is spontaneous nosebleeds that can affect the quality of life and cause iron deficiency anemia
• Specialties involved – Hematology, dermatology, ENT

• Afibrinogenemia is a rare condition that does not allow the blood to clot properly due to the lack of fibrinogen. This condition is inherited in an autosomal recessive manner and affected individuals can be susceptible to severe bleeding that can occur anywhere in the body. This condition is often diagnosed at birth because of the sever bleeding in the umbilical cord that could occur however, symptoms can also present later in life. The bleeding episodes that are arise due to this condition are severeand can cause serious complications including death. women who are affected with this condition could have additional difficulty during menstruation and pregnancy. Treatment is available for this condition.
• specialties involved – hematology

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• Anemia is a condition where the hemoglobin (red blood cells) levels in the blood is considered lower than normal. Though anemia can occur in any individual depending on external factors (lifestyle, diet etc.) there are genetic or inherited forms of anemia.
• Specialties involved – hematology

• Hemophilia is a genetic disorder where the blood doesn’t clot properly because of the lack of blood clotting factors. Individuals with hemophilia have prolonged bleeding times and can get internal bleeding. The genes relating to the clotting factors are located on the X chromosome so this condition is inherited in an X-linked manner. Hemophilia is mostly caused by variants in the F8 and F9 gene and can be tested for using NGS, however, in certain cases hemophilia is caused by an inversion in the F8 gene in which case a different test must be performed (F8 intron 22 inversion by PCR)

• Hemophagocytic lymphohistiocytosis (HLH) is a condition that occurs when the immune system is too active which causes fever and enlargement of the liver and the spleen. HLH can calso damage redblood celss and cause bruising and abnormal bleeding. HLH can be inherited (familial) or aquired, if HLH is inherited then it is usually inherited in an autosomal recessive or X-linked manner. There are 5 different types of familial HLH that are caused by variants in different genes, individuals with inherited (familial) HLH usually present with symptoms within the first few years of life.
• Specialities involved – hematology, nephrology, hepatology, cardiology, oncology, neurology

• Beta thalassemia is a condition that is characterized by the reduction of hemoglobin in blood. The role of hemoglobin is to transport the oxygen in the blood to other body organs, a lack of hemoglobin means lack of oxygen which could lead to severe health risks. Depending on the severity of symptoms individuals could be affected by beta thalassemia major, beta thalassemia intermedia or beta thalassemia minor . All types of beta thalassemia are inherited in an autosomal recessive manner, there are some rare cases where a variant in the gene associated with beta thalassemia (HBB) can be inherited in an autosomal dominant manner. Due to the nature of the genetic mutations that can be associated with this condition there are two different methods of testing for beta thalassemia – Gene sequencing by NGS (most common) and deletion/duplication analysis by MLPA (rare cases)
• Specialties involved: hematology

• Beta thalassemia is a condition that is characterized by the reduction of hemoglobin in blood. The role of hemoglobin is to transport the oxygen in the blood to other body organs, a lack of hemoglobin means lack of oxygen which could lead to severe health risks. Depending on the severity of symptoms individuals could be affected by beta thalassemia major, beta thalassemia intermedia or beta thalassemia minor . All types of beta thalassemia are inherited in an autosomal recessive manner, there are some rare cases where a variant in the gene associated with beta thalassemia (HBB) can be inherited in an autosomal dominant manner. Due to the nature of the genetic mutations that can be associated with this condition there are two different methods of testing for beta thalassemia – Gene sequencing by NGS (most common) and deletion/duplication analysis by MLPA (rare cases)
• Specialties involved: hematology

• Von Willebrand Disease (VWF) occurs when the blood in the body does not form clots becauseof low levels of a protein called von Willebrand factor. This condition is inherited in an autosomal dominant manner and can occur at any age, VWF can also be inherited in an autosomal recessive manner which could result in a severe form of the disease. Individuals with this condition are at risk of excessive, heavy bleeding that can be life-threatening and damage different body organs.
• Specialties involved: hematology

• Thrombophilia is a condition that occurs when there is an imbalance in the natural blood clotting factors in the blood. Individuals with this condition are at risk of developing blood clots that can travel to different organs and cause severe damage. There are several different types of thrombophilia depending on the blood clotting factor that has the imbalance. Thrombophilia is associated with autosomal dominant inheritance.
• Specialities involved: Hematology – additional specialities are dependent on where clots form and could include: cardiology andpulmonolgy

• Thrombocytopenia is a condition that results when the amount of platelets in the blood is very blow. Platelets help the blood clots and prevents excessive bleeding. This condition can be inherited or acquired as a result of other health problems. The severity of the condition is varies from case to case, this condition could be inherited in an autosomal dominant, autosomal recessive and X-linked manner. Thrombocypenia is also associated with several syndromes.
• Specialities involved: hematology, oncology, immunology