Microcytic hypochromic anemia


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Microcytic hypochromic anemia

  1. 1. Ahmed Salah Eldin (42) Ahmed Adel Emara (49) Ahmed Salah Eldin Maarof (43) Ahmed Adel Fouad (48) Ahmed Tarek Abd Elnabi (45) Ahmed Adel Abd Abd Elrahman (46)
  2. 2. This is a group characterized by an MCV (<76 fL) and MCHC (<32g/dL) below the normal range or an increased microcytic and hypochromic subpopulation. These changes result from a decreased production of hemoglobin.
  3. 3. β - Most common around meditranian sea. In β - thalassemia there is impaired production of β -chain due to mutation of one gene "heterozygous" or both genes homozygous". According to degree of β – chain deficiency β thalassmia is divided into: • Βo no β-chain synthesis no HbA only HbF and HbA2. • β+ little β-chain synthesis, so HbA is scanty and more HbF and HbA2. • β++ more β chain synthesis → thalassemia intermediate.
  4. 4. • Age of presentation usually start at the age of 6-12 months. • Clinical evidence of haemolytic anemia, pallor, jaundice hepatosplenomegaly mongoloid facies. • Crisis: – Haemolytic crisis precipitated by infection by parvovirus B19. – Megaloblastic crisis due to folic acid deficiency • Cardiomegally and hemic murmur. • Growth retardation • short stature • delayed puberty due to endocrinal disturbances.
  5. 5. Clinical Picture • Increase susceptabilty to infection • Iron overload (haemochromatosis) • Anemic heart failure. Hypersplenism. • Pathological fracture. • Complications of repeated blood transfusion: e.g. hepatitis C.
  6. 6. • Hypochromic microcytic anemia with • • • • • • • • • anisocytosis, poikilocytosis, target cell. Reticulocytic count: increased nucleated RBCs in peripheral blood. Increase serum iron with decrease serum iron binding capacity. Hb electrophoresis: (increase HbF). B.M. examinations show erythroid hyperplasia. X-ray bone of skull → hair on end apearance due to widening of diploid space. -Cardiomegaly may be present. Evident diagnosis: Genotyping or P.C.R. (Polymerase Chain Reaction) to detect the mutation on -Weak mutation → thalassemia intermedia Strong mutation → thalassemia major
  7. 7. (Heterozygous ) It may be asymptomatic or symptomatic: -Mild anemia (Hb 9-11 g/dl) accentuated during infections. -Anemia is microcytic hypochromic and does not respond to iron therapy. -No jaundice or other signs of hemolysis. -Hb electrophoresis: Hb A is predominant, Hb A2 is increase ( 4%), Hb F may be slightly increase.
  8. 8. : Affects 2-10 % of homozygous patients and is characterized by: • Patients have higher ability to produce β –chain and high production of γ-chains. • Genetic, morphologic and biochemical features: like β-thalassemia major. • Anemia is milder (Hg level 7-10g/dl). • Pallor, jaundice, facial bony changes, splenomegaly and hepatomegaly are present. • No growth retardation and no hypogonadism. Treatment: -Blood transfusion is usually not needed and given only when required. -Decrease iron absorption from GIT (e.g. drink a cup of tea after each meal). -Chelation therapy and folic acid supplementation.
  9. 9. • • • Hb E is the second most common Hb variant. The clinical course of E β-thalassemia is punctuated by acute and chronic complications that may cause serious morbidity and mortality. The marked expansion of erythropoiesis is responsible for much of the pathology of the disease, including: 1. hepatosplenomegaly 2. extramedullary hematopoietic masses, 3. growth retardation, 4. delayed sexual maturation 5. bone deformities. 6. Cardiopulmonary disease is the most common cause of death in Hb E βThalassemia.
  10. 10. Definetion: decreased total iron body content enough to diminish erythropoiesis.
  11. 11. 1-Dietary factors->Lack of breast feeding with unsupplemented cow milk or formula and delayed weaning-Substances that diminish the absorption of iron e.g. phytates... 2-Storage defect->iron deficient mother- preterm child-LBWIUGR. 3-Infection->reduces appetite, absorption-increases loss(vomiting..)-depresses BM. 4-Hemorrhage->chronic blood loss e.g. hookworm infestationsmilk protein intolerance. 5-Hemosiderinuria, hemoglobinuria, and pulmonary hemosiderosis->loss of iron. 6-Malabsorption of iron->Prolonged achlorhydria.
  12. 12. Clinical Picture: In addition to general manifestations of anemia there are decrease mental concentration, atrophy of mucosa,anorexia,immune suppretion,muscular weakness… . Investigations: Serum ferritin is low, Decreased serum iron, increased iron binding capacity, Microcytosis, hypochromi a, anisocytosis, Increased red cell distribution width (RDW).
  13. 13. Treatment:  Prophylactic->adequate fe supply for pregnantsupplementation starting from 4th month.  Curative-> 1-6 mg/kg/day of elemental iron. 2-Diet adjustments- increase amount of Fe in the diet. 3-Transfusion in severe cases Hb<6. 4-parentral is not preferred.
  14. 14. Atransferrinemia Definition: Atranferrinemia is a genetic disorder wherein the plasma protein that carries iron (transferrin) in the blood stream is lacking. Pathophysiology: This disease is characterized by a microcytic hypochromic anemia, and an iron deposition in the heart and liver. This iron damage to the heart can also be the cause of heart failure while anemia is typically hypochromic and microcytic. Death may occur due to heart failure or pneumonia.
  15. 15. Clinical Picture: Iron overload occurs mainly in the liver, eye, pancreas, thyroid, kidney and joints, leading to moderate to serious symptoms of liver and eye, arthropathy and hypothyroidism. Treatment: plasma infusion of transferrin->If this therapy is repeated once or twice monthly, the patient becomes hematologically normal within a few months.
  16. 16. • • • • A heterogeneous group of disorders Variable red cell hypochromia, anemia The ringed sideroblasts should total 10% or more of the nucleated red cell Failure to utilize iron properly during heme synthesis in the mitochondria
  17. 17. Hereditary/congenital SA • Primary X-linked • Primary autosomal Acquired • Primary idiopathic • Secondary acquired • Drugs: isoniazid, chloramphenicol • Toxins: alcohol (chronic abuse), lead • Copper deficiency • Zinc excess
  18. 18. Defect in mitochondrial function and heme synthesis mutant ALAS enzymes Ferrochelatase defects copro-oxidase defects
  19. 19. •History of failure of growth •Family history of mitochondrial disease and anemia •General symptoms of anemia, •Vital signs – Hypothermia •Skin - Photosensitivity (porphyria) •Cardiovascular – Fatigue •Respiratory – Dyspnea •Musculoskeletal - Muscular weakness •Genitourinary - Pink staining of diapers from porphyrins in urine
  20. 20. • Complete blood count (CBC), • peripheral smear, • iron studies, • bone marrow aspiration and biopsy. Microcytosis • variable degree of anemia • Serum iron and ferritin are elevated • TIBC reduced.  partially treated iron deficiency anemia.  acquired disorders associated with the presence of excess ringed sideroblasts in the marrow
  21. 21. • Infants developing in the womb of a woman, who have elevated blood lead level, are susceptible to lead poisoning. There is also a risk as the baby comes closer to full term, as the woman is more likely to have a premature, or with a low birth weight. • Children are more at risk for lead poisoning because their smaller bodies are in a continuous state of growth and development. • The classic signs and symptoms in children are loss of appetite, abdominal pain, vomiting, weight loss, constipation, anemia, kidney failure, irritability, lethargy, learning disabilities, and behavioral problems.
  22. 22.  Copper deficiency is a very rare hematological and neurological disorder. Copper deficiency is only seen in malnourished premature babies and in patients receiving long-term parenteral nutrition with inadequate copper supplementation.  Copper is absorbed almost exclusively during the last trimester and deficiency in a premature infant may be accentuated if the child is given copper-deficient feeds such as cows’ milk at an early age.
  23. 23. • Surgery : Bariatric surgery, such as gastric bypass surgery.The disruption of the intestines and stomach from the surgery can cause absorption difficulties. • Zinc Toxicity • Hereditary Disorders : Menkes disease is a hereditary condition caused by a defective gene involved with the metabolism of copper in the body. Menkes disease is usually a fatal disease with most children dying within the first ten years of life. • ​Other : It is rarely suggested that excess iron supplementation causes copper deficiency myelopathy. celiac disease, probably due to malabsorption in the intestines.Still, a large percentage, around 20%, of cases have unknown causes.
  24. 24. • Iron Transportation: Hephaestin is a copper containing ferroxidase enzyme located in the duodenal muscosa that oxidizes iron and facilitates its transfer across the basolateral membrane into circulation. • Ceruloplasmin,This enzyme is required to mobilize iron from the reticuloendothelial cell to plasma. It also oxidizes iron from its ferrous state to the ferric form that is required for iron binding. • Impairment in these copper dependent enzymes that transport iron may cause the secondary iron deficiency anemia. • Another speculation for the cause of anemia is involving the mitochondrial enzyme cytochrome c oxidase. The lower rate of the enzyme might cause the excess iron to clump, giving the heme an unusual pattern known as ringed sideroblastic anemia cells.
  25. 25. Hematological Findings: • tiredness, fatigue, and light headedness. These are all common symptoms of anemia. • All types of anemia including microcytic , macrocytic and normocytic manifest. Around half of the patients displayed “leukopenia". • In addition to leukopenia, many patients are deficient in neutrophils (neutropenia). • Usually prolonged copper deficiency has to persist to manifest thrombocytopenia.
  26. 26. Neurological presentation: • Myelopathy : difficulty in walking caused by sensory ataxia due to dorsal column dysfunction or degeneration of the spinal cord • Peripheral neuropathy : numbness or tingling that can start in the extremities . • Optic neuropathy : signs of vision and ​color loss. The vision is usually lost in the peripheral views of the eye.
  27. 27. • The diagnosis is made by demonstrating a low serum copper and ceruloplasmin. • Examination of the marrow reveals decreased granulocyte maturation, vacuolization of red blood cell precursors, and ringed sideroblastic cells are present . • Neutropenia has become a hematological hallmark, enabling physicians to investigate copper deficiency as a diagnosis.
  28. 28.  Lead poisoning is a medical condition caused by increased levels of the heavy metal lead in the body.  Routes of exposure to lead includes contaminated air, water, soil, food,and consumer products. Occupational exposure is a common cause of lead poisoning in adults.
  29. 29. • Infants developing in the womb of a woman, who have elevated blood lead level, are susceptible to lead poisoning. There is also a risk to have a premature, or with a low birth weight. • Children are more at risk for lead poisoning because their smaller bodies are in a continuous state of growth and development.
  30. 30. • One of the main causes for the pathology of lead is that it interferes with the activity of an essential enzyme called deltaaminolevulinic acid dehydratase, or ALAD, which is important in the biosynthesis of heme, the cofactor found in hemoglobin. • Lead also inhibits the enzyme ferrochelatase, another enzyme involved in the formation of heme. • Lead's interference with heme synthesis results in production of zinc protoporphyrin and the development of anemia. • Another effect of lead's interference with heme synthesis is the buildup of heme precursors, such as aminolevulinic acid, which may be directly or indirectly harmful to neurons.
  31. 31. • The main tool in diagnosing and assessing the severity of lead poisoning is laboratory analysis of the blood lead level (BLL). • Blood film examination may reveal basophilic stippling of red blood cells (dots in red blood cells visible through a microscope), as well as the changes normally associated with iron-deficiency anemia (microcytosis and hypochromasia).
  32. 32. • Anemia is the commonest hematologic manifestation of systemic disease and is the result of a number of contributing factors. It occurs in patients with a variety ​of chronic inflammatory and malignant conditions and can be complicated by bleeding, immune phenomena, nutritional deficiencies and other organ- or disease-specific features.
  33. 33.  The anemia is usually mild, 2–3 g/dL below the lower normal limit for a given individual, and nonprogressive with the severity being related to the severity of the disease process. • Associated features indicative of chronic inflammation such as neutrophilia, thrombocytosis and rouleaux formation may be present. • In addition to hematologic tests, there may be low albumin, elevated fibrinogen and γ-globulin​ concentrations.  In anemia of chronic disease without iron deficiency, ferritin levels should be normal or high, reflecting the fact that iron is stored within cells. In iron deficiency anemia ferritin should be low.  Examination of the bone marrow to look for the absence or presence of iron, or a trial of iron can provide more definitive diagnoses.
  34. 34. • Vitamin b6 deficiency results in inadequate heme production and, thus, lowers concentrations of hemoglobin in red blood cells. This condition, called microcytic, hypochromic anemia, interferes with the ability of red blood cells to deliver oxygen to tissues and impairs their ability to produce ATP via anaerobic metabolism.
  35. 35. Clinical picture: • Cheilosis. • Glossitis. • Stomatitis . • Fatigue.
  36. 36. • Vitamin B6 deficiency is rare when food is abundant, however, the damaging effect of high temperature on Vitamin B6 was not well understood, and Vitamin B6 added to infant formula was destroyed during heat processing, thus many formula-fed infants developed Vitamin B6 deficiency. This unfortunate “epidemic” of Vitamin B6 caused serious complications such as seizures and convulsions. Manufacturing procedures have changed so that infant formula now contains sufficient amounts of this essential nutrient.