Hematologic diseases specifically refer to diseases affecting the blood. Sometimes, people can be prone to bleeding due to inherited disorders. In some instances, the blood does not clot properly and in others, hemoglobin, the pigment component of blood, becomes defective. There are many hematological diseases that cause these symptoms.
Hemophilia
The Mayo Clinic says that hemophilia is an inherited medical disease in which the blood does not clot properly. Three types of hemophilia exist: hemophilia A, B and C. Hemophilia A is the most common and is defined by a deficiency in clotting factor VIII. Hemophilia B is the next most common, with a deficiency in clotting factor IX. Hemophilia C is rare and is due to a lack of clotting factor XI.
Hemophilia symptoms include the appearance of multiple large bruises, unexplained nosebleeds, joint tightness, bloody stool or urine, and swelling that occurs as a result of internal bleeding. Prolonged bleeding from cuts or surgeries, neck pain, fatigue, double vision (diplopia), excessive vomiting and sudden pain or warmth of the joints of the hips, shoulders, knees or elbows are some other causes of hemophilia.
Treatment for hemophilia A involves receiving injections of the hormone desmopressin (DDAVP). Sometimes infusing (giving slowly through the vein) clotting factors can help manage hemophilia A and B. Hemophilia C is treated with plasma (liquid component of blood) infusions.
Von Willebrand Disease
Von Willebrand disease is another clotting disorder that leads to prolonged and excessive bleeding. According to the Mayo Clinic, von Willebrand disease is the most common inherited bleeding disease.
Symptoms of von Willebrand disease include bleeding of the gums, prolonged nose bleeds, excessive vaginal bleeding during menstruation and blood in the urine or stool. This disease also causes easy bruising and lumps underneath the skin.
The Mayo Clinic says that von Willebrand disease occurs as a result of a deficiency of the von Willebrand factor. Genes (DNA) typically produce this, but an alteration in the gene leads to no production of it at all. This factor is like the glue that holds the platelets (necessary for clotting) together. It also allows platelets to stick to blood vessel walls.
Treatment of von Willebrand disease includes desmopressin hormone therapy via an injection or nasal spray. It induces the body to release von Willebrand factor from the blood vessels. Also, von Willebrand sufferers can receive an infusion of blood clotting factors containing von Willebrand factor and factor VIII. Contraceptives are also used to stop heavy menstrual bleeding while medications such as aminocaproic acid help reduce the breakdown of blood clots. Fibrin sealants, a kind of tissue adhesive, also helps manage symptoms of von Willebrand disease.
Thalassemia
Thalassemia is another inherited blood disorder in which the hemoglobin component of red blood cells is altered. Hemoglobin is responsible for carrying oxygen.
MedlinePlus says that two types of thalassemia exist: alpha and beta. Hemoglobin's structure is composed of alpha and beta chains. Alpha thalassemia refers to a condition where the alpha chain is altered or missing. Beta thalassemia is a blood condition in which the beta globin protein is changed or missing. Two forms of thalassemia exist: major and minor. Thalassemia major is inherited from both parents, says MedlinePlus. Thalassemia minor occurs from receiving an altered gene from only one parent.
Thalassemia symptoms include shortness of breath, yellowing of the skin, fatigue, delayed growth and swelling of the spleen or liver.
This disease is typically found in people of Asian, Mediterranean, Chinese and African American descent. Family history can also make people predisposed to thalassemia.
Treatment includes blood transfusions and folate supplements. Sometimes, a bone marrow transplant may be necessary, so that the bone marrow can produce healthy red blood cells.
