Aplastic anaemia, Anaemia of chronic disorders,.pptx

Aplastic anaemia, Anaemia of chronic disorders

1. Aplastic anaemia , Anaemia of chronic disorders, Sideroblastic anaemia : aetiology , pathogenesis, clinical features, laboratory investigations. Bone marrow examination, composition & functions, aspiration techniques, processing and staining.

2. Aplastic Anemia - Pancytopenia Aplastic anemia is a rare but serious blood disorder. It happens when your bone marrow can’t make enough blood cells and platelets. People with aplastic anemia have an increased risk of serious infections, bleeding issues, heart issues and other complications. There are treatments to manage aplastic anemia symptoms, but a stem cell transplantation is the only cure. Aplastic anemia is a syndrome of bone marrow failure characterized by peripheral pancytopenia and marrow hypoplasia.

3. How common is this condition? Each year, 300 to 900 people in the United States receive an aplastic anemia diagnosis. Studies show aplastic anemia affects 2 in 1 million people in Europe. Anyone can develop aplastic anemia, but it typically affects people ages 15 to 25 and age 60 and older.

4. Symptoms Aplastic anemia signs and symptoms can include: Fatigue Shortness of breath Rapid or irregular heart rate Pale skin Frequent or prolonged infections Unexplained or easy bruising Nosebleeds and bleeding gums Prolonged bleeding from cuts Skin rash Dizziness Headache Fever Frequent viral infections that last longer than usual. Aplastic anemia can be short-lived, or it can become chronic. It can be severe and even fatal.

5. Causes Stem cells in the bone marrow produce blood cells — red cells, white cells and platelets. In aplastic anemia, stem cells are damaged. As a result, the bone marrow is either empty (aplastic) or contains few blood cells (hypoplastic). Bone marrow Bone marrow is a red, spongy material inside your bones that produces blood cells. The most common cause of aplastic anemia is from your immune system attacking the stem cells in your bone marrow. Other factors that can injure bone marrow and affect blood cell production include:

6. Causes of Apastic Aneamia Radiation and chemotherapy treatments. While these cancer-fighting therapies kill cancer cells, they can also damage healthy cells, including stem cells in bone marrow. Aplastic anemia can be a temporary side effect of these treatments. Exposure to toxic chemicals. Toxic chemicals, such as some used in pesticides and insecticides, and benzene, an ingredient in gasoline, have been linked to aplastic anemia. This type of anemia might improve if you avoid repeated exposure to the chemicals that caused your illness. Use of certain drugs. Some medications, such as those used to treat rheumatoid arthritis and some antibiotics, can cause aplastic anemia. Autoimmune disorders. An autoimmune disorder, in which your immune system attacks healthy cells, might involve stem cells in your bone marrow.

7. A viral infection. Viral infections that affect bone marrow can play a role in the development of aplastic anemia. Viruses that have been linked to aplastic anemia include hepatitis, Epstein-Barr, cytomegalovirus, parvovirus B19 and HIV. Pregnancy. Your immune system might attack your bone marrow during pregnancy. Unknown factors. In many cases, doctors aren't able to identify the cause of aplastic anemia (idiopathic aplastic anemia).

8. Types of Apastic Anemia Inherited aplastic anemia Also known as constitutional aplastic anemia, this type is passed down through genes from parents and is most common in children and young adults. It's a rare genetic disease that can first appear in adulthood, even without a family history of blood disease. People with inherited aplastic anemia have a higher chance of developing leukemia and other cancers, so they should see a specialist regularly. If you have inherited aplastic anemia, it's important to have siblings tested so the disease can be treated as early as possible. Acquired aplastic anemia This type develops after birth and is more common than inherited aplastic anemia. It's usually caused by the immune system mistakenly attacking the bone marrow, which is known as autoimmunity. Researchers believe that certain environmental or health conditions can trigger this type of aplastic anemia, such as viruses like HIV or Epstein-Barr, certain medications, toxic chemicals, or radiation or chemotherapy treatment for cancer. Most patients with acquired aplastic anemia can respond to therapy that suppresses the immune system, such as ATG and cyclosporine.

9. What Causes Aplastic Anemia? Damage to the bone marrow's stem cells causes aplastic anemia. When stem cells are damaged, they don't grow into healthy blood cells. The cause of the damage can be acquired or inherited. "Acquired" means you aren't born with the condition, but you develop it. "Inherited" means your parents passed the gene for the condition on to you. Acquired aplastic anemia is more common, and sometimes it's only temporary. Inherited aplastic anemia is rare. In many people who have aplastic anemia, the cause is unknown. Some research suggests that stem cell damage may occur because the body's immune system attacks its own cells by mistake.

10. Acquired Causes Many diseases, conditions, and factors can cause aplastic anemia, including: Toxins, such as pesticides, arsenic, and benzene. Radiation and chemotherapy (treatments for cancer). Medicines, such as chloramphenicol (an antibiotic rarely used in the United States). Infectious diseases, such as hepatitis, Epstein-Barr virus, cytomegalovirus (si-to-MEG-ah-lo-VI-rus), parvovirus B19, and HIV. Autoimmune disorders, such as lupus and rheumatoid arthritis. Pregnancy. (Aplastic anemia that occurs during pregnancy often goes away after delivery.) Sometimes, cancer from another part of the body can spread to the bone and cause aplastic anemia.

11. Inherited Causes Certain inherited conditions can damage the stem cells and lead to aplastic anemia. Examples include Fanconi anemia, Shwachman-Diamond syndrome, dyskeratosis (DIS-ker-ah-TO-sis) congenita, and Diamond-Blackfan anemia.

12. How is aplastic anemia diagnosed? Healthcare providers diagnose aplastic anemia by doing physical examinations, blood tests and genetic tests. Tests may include: Complete blood count (CBC) with differential. This tests and measures your blood cells, including all five types of white blood cells. Peripheral blood smear. Medical pathologists examine your blood cells and platelets under a microscope. Reticulocyte count. This test counts the number of immature red blood cells (reticulocytes). Bone marrow aspiration and bone marrow biopsy. Providers do these procedures to obtain bone marrow tissue that pathologists examine under a microscope.

13. How is aplastic anemia treated? Treatments vary depending on your situation. For example, some people develop aplastic anemia because they’re receiving cancer or autoimmune disease treatments. In that case, providers may be able to treat aplastic anemia by changing the treatments. If tests show your blood cell levels are lower than normal and you don’t have symptoms, providers may say you have moderate aplastic anemia. In that case, your provider may recommend monitoring your overall health and blood counts so they can move quickly if it looks as if your condition is getting worse. Treatments for more serious forms of aplastic anemia include: Immunosuppressants. These medicines hold back your immune system so it stops attacking your stem cells. Antithymocyte globulin injection (Atgam®) and cyclosporine (Sandimmune®) are examples of immunosuppressants that treat aplastic anemia. Blood transfusions. Transfusions replace red blood cells and platelets. Transfusions don’t cure aplastic anemia, but they may ease some symptoms. Antibiotics. Aplastic anemia increases bacterial infection risk. Antibiotics help treat infections. Allogeneic stem cell transplantation. Providers replace damaged stem cells in your bone marrow with healthy stem cells from donated blood or bone marrow.

14. Anaemia of chronic disorders Anemia of chronic disease happens when you have an autoimmune disease or other illness lasts longer than three months and that causes inflammation. (Providers may use the term anemia of inflammation or anemia of inflammation and chronic disease). Chronic inflammation can affect your body’s ability to use iron needed to make enough red blood cells. Anemia happens when you don’t have enough red blood cells. Most of the people who have anemia of chronic disease have a mild form of the condition. Healthcare providers treat anemia of chronic disease by treating the underlying condition.

15. Who is affected by anemia of chronic disease? Like its name, anemia of chronic disease may affect anyone who has a chronic illness. Anyone who has a chronic illness may develop anemia of chronic disease. That said, most of the people who have this condition are age 65 and older. Studies indicate about 1 million people in the United States age 65 and older have anemia of chronic disease. Diseases that may cause anemia of chronic disease include: Cancer. Chronic kidney disease. Heart failure (congestive heart failure). Autoimmune diseases. These are diseases that attack your immune system instead of protecting it.

16. Causes Anemia is a lower-than-normal number of red blood cells in the blood. ACD is a common cause of anemia. Some conditions that can lead to ACD include: Autoimmune disorders, such as Crohn disease, systemic lupus erythematosus, rheumatoid arthritis, and ulcerative colitis Cancer, including lymphoma and Hodgkin disease Long-term infections, such as bacterial endocarditis, osteomyelitis (bone infection), HIV/AIDS, lung abscess, hepatitis B or hepatitis C.

17. Symptoms of anemia of chronic disease Anemia of chronic disease symptoms are like symptoms of iron-deficiency anemia. Not everyone who has anemia of chronic disease will notice symptoms. Some people may only notice symptoms when they’re exercising. People who do have symptoms even when they aren’t exercising may: Feel very tired or weak. They may feel too weak to manage their day-to-day activities. Feel short of breath. Notice their skin is more pale than usual. Feel sweaty for no reason. Feel dizzy or faint. Have headaches.

18. Sideroblastic anaemia Sideroblastic anemia means the iron inside the red blood cells isn’t used effectively to produce hemoglobin — the protein that helps red blood cells deliver oxygen throughout the body. As a result, iron can build up in red blood cells, giving a ring appearance (sideroblast) around the cell’s nucleus. Without sufficient oxygen, organs such as the brain, heart, and liver can start to work less efficiently, causing symptoms and potentially serious long-term health problems. Sideroblastic anemia (SA) is a rare blood disorder that affects how your body produces red blood cells. SA causes anemia and iron overload

19. Types There are three types of sideroblastic anemia: genetic (or hereditary) acquired idiopathic Genetic The hereditary form of the disease, which is related to a mutated gene, usually appears by adulthood. Acquired Acquired sideroblastic anemia develops after exposure to toxins, nutritional deficiencies, or other health challenges. Signs of acquired sideroblastic anemia tend to develop after age 65. Idiopathic Idiopathic means the origin of a disease can’t be determined. Some people have symptoms of sideroblastic anemia but no genetic or acquired cause can be discovered.

20. What are the congenital forms of sideroblastic anemia? There are three types of congenital sideroblastic anemia. Congenital SA happens when certain genes mutate or change, affecting red blood cells’ ability to function. Here is more information: X-linked sideroblastic anemia: This is the most common form of congenital anemia. It happens when the gene that forms a specific enzyme ALAS2 mutates, creating a hemoglobin shortage. People who have X-linked sideroblastic anemia have mature red blood cells that appear pale and are smaller than normal (microcytic.) They also have more iron in their body. Autosomal recessive sideroblastic anemia (ARCSA): This is the second most common form of sideroblastic anemia. ARCSA affects infants and very young children. ARCSA is a serious and sometimes life-threatening condition that happens when there’s too much iron in people’s blood. Maternal: Maternal congenital sideroblastic anemia represents about 20% of all CSA cases. It happens when the MT-ATP6 gene mutates, affecting your mitochondrial function. (Mitochondria are in your cells. They’re responsible for cells’ main source of energy. They do that by converting energy from food into a form that cells can use.)

21. What are acquired forms of sideroblastic anemia? There are two types of acquired sideroblastic anemia — primary and secondary. Primary SA refers to SA linked to myelodysplastic syndrome. Secondary SA refers to SA that may develop after significant exposure to certain metals, chemicals and medication. Substances that may cause secondary sideroblastic anemia include: Alcohol: Alcohol use disorder is the most common cause of acquired sideroblastic anemia. Heavy metal poisoning: This includes lead poisoning and arsenic poisoning. Vitamin B deficiency: Vitamin B helps develop heme, which becomes hemoglobin and helps carry oxygen. Copper deficiency: Copper helps create an enzyme that protects against iron overload. Zinc overdose: Too much zinc affects how your body uses iron and absorbs copper. People can get too much zinc by taking supplements. Medications: Certain antibiotics, chemotherapy, hormones and medication to remove copper from your system may cause secondary acquired sideroblastic anemia. Healthcare providers treat this form of SA by evaluating medications and eliminating those that appear to cause SA.

22. What are sideroblastic anemia symptoms? Like many forms of anemia, sideroblastic symptoms include: Fatigue: This is feeling so tired you can’t manage daily activities. Shortness of breath (dyspnea): This is feeling as if you can’t catch your breath. Heart palpitations: This is a feeling your heart is racing or beating unusually fast. Headaches. People who have X-linked sideroblastic anemia may have additional symptoms that happen because they don’t have enough hemoglobin and they have too much iron in their systems. Those symptoms include: Enlarged liver: Your liver manages many essential functions in your body. Enlarged spleen: Your spleen is a fist-sized organ in your upper abdomen. You may not notice if your spleen is larger than normal, or you may have dull pain in your upper abdomen. Bronze-colored skin: If your body is storing too much iron, your skin may look bronze or brownish. Uncontrolled diabetes mellitus. Physical examination features: Conjunctival pallor, pale skin, growth retardation in children, hypothermia, hypotension, tachycardia, scleral icterus, lead line on teeth margins, photosensitivity, petechiae, jaundice, ataxia, diminished deep-tendon reflexes, incoordination, heart failure symptoms, dyspnea

23. What causes sideroblastic anemia? The causes of genetic or acquired sideroblastic anemia can usually be discovered through testing. Genetic Hereditary sideroblastic anemia can result from a mutation of the ALAS2 and ABCB7 genes found on the X chromosome, or from mutations of genes on different chromosomes. Other genetic conditions, such as Pearson syndrome or Wolfram syndrome, may also cause sideroblastic anemia. A rare genetic condition that is usually diagnosed before age 30. The most common form is X-linked sideroblastic anemia, which is caused by a mutation in a gene. Other causes include mutations in SIDBA1, SIDBA2, SIDBA3, and HSPA9. Acquired Sideroblastic anemia can result from an assortment of health challenges, such as: alcohol misuse hypothermia zinc overdose deficiencies of certain vitamins and minerals such as copper and vitamin B-6 Certain medications, such as antibiotics, progesterone, and anti-tuberculous agents, may also trigger sideroblastic anemia.