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Other Blood Disorders

This is a brief introduction to blood diseases. The diseases related to blood components can be categorized into malignant disorders (blood cancers) and non-malignant disorders (non-cancererous). Amongst malignant disorders of blood are various types of leukemia, lymphoma, myeloma, myeloproliferative and myelodysplastic syndrome

Non-malignant disorders of blood include various types of anemia, thalassemia, sickle cell disease, aplastic anemia, bleeding disorders, coagulation disorders. Few of these non-malignant disorders are very grave diseases like aplastic anemia and require urgent stem cell transplantation or ATG therapy. Here we are presenting a brief introduction to some common blood disorders other than lymphoma. Lymphomas are discussed in detail under separate link on home page

Acute leukemia: acute leukemia is a group of very aggressive blood cancers. These cancers usually involve bone marrow and blood and occasionally also involve other body tissues like skin, brain and any other internal organ. Common symptoms of acute leukemia are: Fever and frequent infections due to lack of normal WBCs, easy bleeding and tiny red spots on skin due to lack of platelets. Increased number of leukemia cells causes fever, pain in bones or joints, headache, vomiting and lack of appetite. The disease is rapidly progressive and lead to death of patient if untreated. There are many types of acute leukemia depending upon cell of origin. Examples are acute lymphoblastic leukemia (ALL) which is a cancer of lymphocytes. ALL can be further subdivided into B Cell ALL or T Cell ALL arising from B lymphocytes and T lymphocytes respectively.

Another very common type of acute leukemia is acute myeloid leukemia (AML) arising from myeloid cells in bone marrow. The ALL is common in children while AML become commoner as age increases.

Treatment of acute leukemia is intensive chemotherapy in multiple phases like induction chemotherapy and consolidation therapy. Bone marrow transplantation is also an integral part of treatment of selected high risk patients with acute leukemia.

Chronic myelogenous leukemia (CML): It is also called chronic granulocytic leukemia. It is due to the presence of abnormal chromosome in the bone marrow cells called Philadelphia chromosome. The Philadelphia (Ph) chromosome is a result of exchange of material between 9th and 22nd chromosomes of a blood stem cell. Ph chromosome leads to uncontrolled growth of blood cells. Common symptoms of CML are: Large spleen size. Sometimes a hard and large spleen is felt on left side of abdomen

  • Weight loss
  • Poor appetite
  • Night sweating
  • Fatigue

CML mostly is a slow blood cancer but in its advanced stages it can be most aggressive blood cancer. There are three phases of CML called chronic phase (the slow phase), accelerated phase and the blast phase. Untreated, the CML progresses from chronic phase to accelerated and blast phase over months to years. Treatment of CML used to be bone marrow transplantation till year 2000. Thereafter an oral drug was engineered to target Philadelphia chromosome (t9:22) which is called Imatinib Mesylate. The drug was very effective in controlling the CML. Now few more oral drugs are available to treat new as well as resistant cases of CML. Bone marrow transplantation is recommended for drug resistant cases or advanced stage of CML.

Chronic Lymphocytic leukemia (CLL): CLL is a slow cancer originating from small lymphocytes in blood, bone marrow or lymph nodes. CLL is classified under lymphomas and is described in detail in Lymphoma link on home page

Multiple Myeloma: This type of cancer of plasma cells. Plasma cells, normally are differentiated and most mature forms of lymphocytes. The function of plasma cells is antibody production to combat infections. But in multiple myeloma, plasma cells become dysfunctional and cancerous. These abnormal plasma cells then multiply quickly and crowd the bone marrow. Abnormal plasma cells also produce dysfunctional antibody which is also called M protein or paraprotein. There are several symptoms of multiple myeloma related to organ damage by plasma cells or M protein. Common symptoms are:

Common symptoms of lymphomas are:

Diagnosis of lymphoma depends upon biopsy from the affected part/ nodes, PET-CT scan of whole body and bone marrow tests. Biopsy from affected node/ swelling is very important to reach to a diagnosis of specific lymphoma type.

Common high grade lymphomas are Diffuse Large B Cell Lymphoma (DLBCL) while common low grade lymphomas are Follicular Lymphoma (FL), CLL/SLL and Marginal Zone Lymphoma (MZL).

Treatment depends upon type of lymphoma. Sometimes a low grade lymphoma in which patient is not having any symptom is not even treated and just kept under observation/ check up at regular interval. Symptomatic low grade lymphomas and all of the high grade lymphomas are treated with multi-agent chemotherapy alone or the chemotherapy followed by bone marrow/ stem cell transplantation. A high dose chemotherapy coupled with stem cell transplant is usually the treatment of choice for lymphoma patients whose cancer has returned or relapsed. The majority of patients undergoing a stem cell transplant will receive their own stem cells (known as an autologous stem cell transplant). Occasionally, a patient will receive stem cells from a donor (known as an allogeneic stem cell transplant). For patients who are not candidates for stem cell transplant, or who relapse even after stem cell transplantation, the options are investigational therapy/ clinical trials or palliation.

It is critical to remember that today’s scientific research is continuously evolving. Treatment options may change as new treatments are discovered and current treatments are improved. Therefore, it is important that patients check with their physician for any treatment updates that may have recently emerged.

  • Pain in bones especially spine and ribs, fractures
  • Low number of RBCs/ anemia, Fatigue
  • Kidney damage
  • Frequent infections
  • High levels of calcium in blood due to bone lysis. High calcium level may cause drowsiness, unconsciousness, severe constipation/ pain abdomen and kidney failure.
  • Loss of power in limbs, numbness, loss of sensation (neuropathy)

Diagnosis of multiple myeloma depends upon bone marrow test, blood and urine tests showing abnormal antibody (the M protein) and whole body X-Ray or PET CT.

Treatment of multiple myeloma is by chemotherapy and Autologous bone marrow transplantation. Allogeneic bone marrow transplantation is also done for selected high risk cases. Usually the disease is controlled by treatment but relapses are common.

Aplastic Anemia (AA): This can also be called bone marrow failure. The stem cells within the bone marrow get destroyed and stop producing blood. It is a rare disease and can affect people of any age, but is most common in young adults. Children with aplastic anemia may have underlying congenital genetic abnormalities leading to bone marrow failure. Adults and elderly patients with aplastic anemia may not be having any detectable underlying cause of the disease but few patients can have history of hepatitis, drug intake or chemical/ radiation exposure linked with aplastic anemia. Common symptoms are:

  • Markedly decreased hemoglobin, WBCs and Platelets in blood
  • Weakness, fatigue and shortness of breathe due to lack of RBCs/ anemia.
  • Frequent infections due to lack of WBCs. Sometimes life threatening infections like septicemia.
  • Easy bleeding or bruising, tiny red spots due to lack of platelets. Sometimes serious bleeding like intracranial bleed, intestinal bleed which can be life threatening

Treatment of aplastic anemia is bone marrow transplantation. The stem cells or bone marrow taken from a suitable donor can repopulate the marrow of the patient and can start producing blood cells again. If bone marrow transplantation is not possible due to unavailability of suitable donor, then antithymocyte globulins (ATG) injections along with cyclosporine can be used for the treatment. Patients above 60 years of age are generally not candidates for bone marrow transplantation due to higher rates complications in advancing ages. Such patients are treated with ATG injections along with cyclosporine. In certain cases, anabolic steroids like stanazole can work.

Thalassemia Major: This disease is a genetic disease due to defect in hemoglobin synthesis. Most of the red blood cells die within the bone marrow due to this defect. This leads to severe anemia and blood transfusion requirement in very young age of <6 months. The major symptom of the disease
  • Severe anemia requiring repeated blood transfusions
  • Growth retardation
  • Excess iron in the body which can damage liver, heart and many other organs.
  • Delayed puberty or no pubertal changes

These patients should get regular blood transfusion and monitoring for infections. Iron chelation therapy should be started to eliminate excess iron from the body. Curative treatment of thalassemia major is bone marrow transplantation. The stem cells/ bone marrow from a suitable donor can replace the patients’ diseased marrow. Various types of bone marrow transplantation available for thalassemia patients depends upon type of stem cell donor. There can be fully HLA matched family donor, fully HLA matched unrelated donor, umbilical cord stem cells, half matched (haplo-identical) donor. Bone marrow transplantation, if done at appropriate age (earliest possible age) can cure majority (>90%) of thalassemia patients.

Thalassemia is caused by defect in globin gene (a genetic defect). If there is only one defective gene then we call it thalassemia minor or thalassemia trait. Such persons are normal looking, not having any symptom. But if a child/ person is having two defective genes then we call it thalassemia major or intermedia. Such children are severely anemia since early childhood and can die without blood transfusions.

As thalassemia is a genetic disease, prevention of thalassemia in society is very important. Only mean of preventing thalassemia or controlling thalassemia occurrence in society is preventing birth of thalassemic child. There should be screening of every person for thalassemia gene (thalassemia trait or minor). One thalassemia minor person should not marry another thalassemia minor person. This can be possible by premarital testing for thalassemia trait.

Unfortunately if there is one child having thalassemia major then the next child should be tested for thalassemia within the uterus at approx 9-11 weeks of pregnancy and if found to be affected with thalassemia major then the pregnancy can be terminated.

Sickle cell Disease (SCD): Normally the hemoglobin molecule remains in soluble state within the red blood cells. Sickle cell disease is characterized by a defective hemoglobin molecule which is insoluble and forms stiff polymers within the red blood cells. SCD is an inherited disease which means that disease is passed on from parent to the child through genes. Here, the child inherits defective hemoglobin genes from each parent. The defective hemoglobin causes RBCs to become stiff and sickle shaped or crescent. This crescent shaped RBCs get stuck in small blood vessels and block them. This further blocks the oxygen to reach the different body parts. Symptoms: Most of the babies do not show the signs of SCD until 4 months of age. Some common signs and symptoms are:

  • Painful crisis: severe pain and swelling in different body parts
  • Fatigue, Shortness of breath, Headache, Dizziness
  • Chest pain, acute chest syndrome (a severe pneumonia like state)
  • aundice, Unusually pale skin
  • Most severe symptoms of SCD are strokes, infections and heart attacks.

Treatment of SCD depends upon symptoms. For painful crisis, adequate fluid intake, oxygen and pain killers are very important. For more severe symptoms, exchange blood transfusion to replace patients’ defective blood with some normal blood is done. The drug hydroxyurea is effective in decreasing the frequency of painful crisis. Bone marrow transplantation is curative treatment and should be done in patients with recurrent severe symptoms.

Immune thrombocytopenia (ITP): ITP is characterized by very low platelet counts (thrombocytopenia) and an increased risk of bleeding. Usually patients are asymptomatic (not having any symptoms) or bleeding in skin (purpura or ecchymoses) and mucous membranes (from mouth or nose). Occasionally these patients can have serious life threatening bleeding specially intracranial bleeding. ITP is an autoimmune disease. Most of the children with ITP have self limiting course with disease remitting within few weeks to months may not actually require treatment in absence of bleeding/ purpura or severe thrombocytopenia. Few children with ITP may require long term treatment due to persistence of disease and bleeding symptoms. On the other hand, most of adult patients with ITP require long term treatment due to persistence of symptoms. Commonly used drugs for ITP are steroids, IVIg, anti D immunoglobulin, rituximab, splenectomy, cyclosporine, azathioprin, dapsone etc.

Summary: There are multitudes of hematological diseases which can be related or unrelated to above mentioned diseases. Many of these disorders are mild or self limiting or require only vitamins/ nutritional support, while others are very serious or life threatening diseases requiring intensive treatment with prolonged hospitalization. For more details about your disease or problem, one should contact a hematologist.