Red and white blood cells disorders · 2020-04-22 · Hemolytic anemia •Destruction of red cells...

Red and white blood cells disorders

MUDr. Ljuba Bacharova, DrSc, MBA

2020

Sideropenic dysphagia:• depapillated tongue, • Depigmentation of the

upper lip• and epithelial erosion of

the lower lip.

Atrophic glossitis: Mucosal atrophy appears as smooth, bald areas devoid of lingual papillae on the dorsal tongue.

RED BLOOD CELLS

Red blood cells

History:

• 1658: Dutch biologist Jan Swammerdam

• 1674 Anton van Leeuwenhoek

• 1901: Karl Landsteiner, blood groups

The oldest intact red blood cells ever discovered:

• Ötzi the Iceman, a natural mummy of a man who died around 3255 BC (discovered in May 2012).

Red blood cells

Function:

• to deliver oxygen from the lungs to the tissues and carbon dioxide from the tissues to the lungs.

• This is accomplished by using hemoglobin (Hb), a tetramer protein composed of heme and globin.

Shape and size:

Red blood cell count (SI units)

Red blood cells• Male: 4.32-5.72 1012/l • Female: 3.90-5.03 1012/l

Hemoglobin• Male: 135-175 g/l

Female: 120-155 g/l

Hematocrit• Male: 0.38 – 0.50

Female: 0.34-0.44

Erythropoiesis:

The process of the origin, development and maturation of erythrocytes

Anemia

Reduction of hemoglobin concentration below the lower limit of normal range for age & sex of the individual.

Consequence:

• Alteration of oxygen and carbon dioxide transport.

Basic reasons:

• blood loss

• increased destruction of RBCs (hemolysis)

• decreased production of RBCs.

Etiology

Genetic etiologies:• Hemoglobinopathies• Thalassemias• Enzyme abnormalities of the glycolytic pathways • Defects of the RBC cytoskeleton • Congenital dyserythropoietic anemia • Rh null disease • Hereditary xerocytosis• Abetalipoproteinemia• Fanconi anemia

Nutritional etiologies:• Iron deficiency • Vitamin B-12 deficiency • Folate deficiency • Starvation and generalized malnutrition

Etiology

Physical etiologies:• Trauma • Burns • Frostbite • Prosthetic valves and surfaces Chronic disease and malignant etiologies:• Renal disease • Hepatic disease • Chronic infections • Neoplasia• Collagen vascular diseases Infectious etiologies:• Viral - Hepatitis, infectious mononucleosis, cytomegalovirus • Bacterial - Clostridia, gram-negative sepsis • Protozoal - Malaria, leishmaniasis, toxoplasmosis

Common symptoms

Compensatory mechanisms

Primary mechanisms of compensation:• Increased cardiac output• Redistribution of cardiac output to the tissues with higher

extraction ratios (brain and heart). If not sufficient - a possible injury.

• Increased oxygen extraction: (an increase in the total body oxygen extraction ratio and to a decrease in mixed venous oxygen saturation).

• Changes in oxygen-hemoglobin affinity: When anemia develops over a long period of time, the oxyhemoglobin dissociation curve is shifted to the right.

• Stimulation of erythropoiesis: An increased production of the growth hormone erythropoietin, leading to the formation of red blood cells.

Normochromic normocytic anemias

• The average size and hemoglobin content of the red blood cells are within normal limits.

• Microscopic examination: more-less like normal cells.

• Anemia caused by the sudden loss of blood is necessarily normocytic at first, since the cells that remain in the circulation are normal.

• The blood loss stimulates increased production, and the young cells that enter the blood in response are larger than those already present in the blood. If the young cells are present in sufficient number, the anemia temporarily becomes macrocytic (but not megaloblastic).

Normal blood cell smear Normochromic normocystic anemia

Normochromic normocytic anemia

A mild normochromic, normocytic anemia is a common finding and usually a consequence of other diseases, including:

1. anemia of chronic disorders: – chronic infection,– all forms of inflammatory diseases,– malignant disease.Mechanism unknown but likely to involve multiple factors; typically leads

to a reduction in the serum iron concentration with concurrent reduction in the level of transferrin.

2. other disorders, including: – renal failure,– hypothyroidism, hypopituitarism,– marrow failure (aplastic anemia, infiltration, pure red-cell aplasia),– acute blood loss,– polymyalgia rheumatica.

Hypochromic microcytic anemias

• Red cells are smaller than normal and poorly filled with hemoglobin.

Two main categories:

• a deficiency of iron,

• impaired production of hemoglobin.

Iron deficiency anemia

The most common cause of anemia.• Iron is required for hemoglobin formation; if the supply is

insufficient to produce normal quantities of hemoglobin, the bone marrow ultimately is forced to produce cells that are smaller than normal and poorly filled with hemoglobin.

Deficiency:• dietary supplies of iron are insufficient (infancy and

childhood - demands are great in the growing body, in pregnancy),

• malabsorption disorders; • blood loss (excessive menstrual loss in women and bleeding

peptic ulcer in men)

Iron deficiency anemia

Sign and symptoms

• a smooth tongue; brittle, flattened fingernails; and lustreless hair.

• Under the name of chlorosis, this type of anemia was mentioned in popular literature and depicted in paintings, especially those of the Dutch masters, until the 20th century.

• Atrophic oral mucosa

• Atrophic mucosa of pharynx, upper esophagus

• Dysphagia: Spasm in throat, food sticking in throat

Plummer–Vinson syndrome

Sideropenic dysphagia:

• difficulty in swallowing, iron deficiency anemia, glossitis, cheilosis and esophageal webs

• increased risk of squamous cell carcinomas of the esophagus and pharynx.

Sideropenic dysphagia:• depapillated tongue, • Depigmentation of the

upper lip• and epithelial erosion of

the lower lip.

β- thalassemia

A hereditary disorder of hemoglobin formation,in which one or more of the polypeptide chains of globin are synthesized defectively.

• common among Mediterranean and Asian peoples• The defect in thalassemia may involve the β-chains of globin (β-

thalassemia), the α-chains (α-thalassemia), the δ-chains (δ-thalassemia), or both δ- and β-chain synthesis.

• Two main types, alpha thalassemia and beta thalassemia. Beta-thalassemia comprises the majority of all thalassemias.

Often there is mild to severe anemia:• feeling tired and pale skin• bone problems, an enlarged spleen, yellowish skin, dark urine, and among

children slow growth.Thalassemia major (Cooley anemia) is characterized by severe anemia,

enlargement of the spleen, and body deformities associated with expansion of the bone marrow.

β- thalassemia

Prenatal diagnosis of thalassemia

• Genetic tests: Diagnosis may occur before birth through prenatal testing.

• It is facilitated by deoxyribonucleic acid(DNA) analysis of amniotic fluid cells, and it plays an important role in genetic counseling.

Aplastic anemia

Pathogenetically heterogeneous bone marrow failures the inability of the stem cells to generate mature blood cells.

• This causes a deficiency of all three blood cell types (pancytopenia): red blood cells (anemia), white blood cells (leukopenia), and platelets (thrombocytopenia).

• Manifestations of aplastic anemia are related to these deficiencies and include weakness, increased susceptibility to infections, and bleeding.

Aplastic anemia

Severe oral candidiasis (thrush)

Etiology:

• Idiopathic (> 80 %)• Drug-induced (< 20 %)• Post-infectious (particularly after hepatitis due to a

hitherto unidentified pathogen (< 5 %)• Drugs proved or at least suspected to induce AA are,

among others, anti-inflammatory substances (gold, pencillamines, phenylbutazone, diclofenac, indomethacin), anticonvulsant drugs (phenytoin, carbamazepine), thyreostatic drugs (carbimazole, thiouracil), antidiabetic drugs (tolbutamide), antimalarial agents (chloroquine), antibiotics (sulfonamides, cotrimoxazole, chloramphenicol)

• In some cases the onset of aplastic anemia has been found to have been preceded by exposure to such organic chemicals as benzol, insecticides, or a variety of drugs, especially the antibiotic chloramphenicol. While it is well established that certain agents may produce aplasticanemia, most persons exposed to these agents do not develop the disease, and most persons with aplasticanemia have no clear history of exposure to such agents.

• There are other agents that produce aplastic anemia in a predictable way. These include some of the chemotherapeutic agents used in the treatment of cancer, lymphoma, and leukemia, as well as radiation treatment for these diseases.

• Exposure to ionizing radiation from radioactive materials or radiation-producing devices is also associated with the development of aplasticanemia.

• Marie Curie, famous for her pioneering work in the field of radioactivity, died of aplastic anemia after working unprotected with radioactive materials for a long period of time; the damaging effects of ionizing radiation were not then known.

Fanconi anaemia

• A rare genetic disease. • It is the result of a genetic defect in a cluster of proteins responsible

for DNA repair.

• The majority of patients develops cancer, most often acute myelogenous leukemia,

• 90% develop bone marrow failure (the inability to produce blood cells) by age 40.

• About 60–75% of people have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities.

• Around 75% of people have some form of endocrine problem, with varying degrees of severity.

Recurrent ulcer in an individual with Fanconi anemia.

Fanconi anaemia

Symptoms of aplastic anemia

result from the bi- /tri-cytopenia:• Anemia• Neutropenic Infection (oral cavity and pharyngeal ulcers,

necrotizing gingivitis or tonsillitis, pneumonia, phlegmon)• Bleeding of the thrombocytopenic type. • Because of constitutional forms (congenital dyskeratosis

and related forms) attention should be paid especially to pigment anomalies on the skin, leukoplakias in the oral mucosa, dystrophies of finger and toe nails, dyskeratoses as well as clinical signs of pulmonary fibrosis or hepatic cirrhosis

• Lymphadenopathy, hepatomegaly and splenomegaly speak against an aplastic anemia.

Hemolytic anemia

• Destruction of red cells substantially greater than normal,

• not compensated by accelerated red cell production.

Recognized by:

• increased quantities of the pigmentary products of their destruction, such as bilirubin and urobilinogen, in the blood plasma, urine, and feces.

• accelerated erythropoiesis, such as an increase in the number of young cells (reticulocytes) in the blood.

Two principal causes:

Inherently defective red cells:• the weakened cell membrane,• defective cell metabolism,• abnormal hemoglobin).

Environment hostile to red cells

Environment

Transfusion of incompatible red cells:• blood groups:A, B, O, Rh factor

Erythroblastosis fetalis (hemolytic disease of the newborn), the destruction of fetal blood by that of the mother may be due to Rh or ABO incompatibility:

• the passage of incompatible red cells from the fetus into the circulation of the mother through a break in the placental blood vessels

• development of antibodies in the mother,• passage of these antibodies into the fetus, with consequent hemolysis,

anemia, and jaundice.

Autoimmune hemolytic anemia: the formation of antibodies within the patient’s body against his own red cell.

Hemolytic anemia

Hereditary hemolytic anemia

Basically classified by causative mechanism, types of congenital hemolytic anemia include:

• Genetic conditions of RBC Membrane – Hereditary spherocytosis– Hereditary elliptocytosis

• Genetic conditions of RBC metabolism (enzyme defects).

• Hemoglobinopathies/genetic conditions of hemoglobin – Sickle cell anemia– Congenital dyserythropoietic anemia– Thalassemia

Hereditary spherocytosis:

• Autosomal dominant abnormality of erythrocytes involving the red cell membrane.

• Characterized by the presence of red cells that appear small, stain densely for hemoglobin, and look nearly spherical.

• Mechanically fragile.

• Cells are taken for degradation at the spleen. The abnormality is aggravated by a tendency for the cells to remain longer than usual in the spleen because of their spheroidal shape.

Spherocytosis

Hereditary elliptocytosis

• Also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the patient's erythrocytes (i.e. red blood cells) are elliptical rather than the typical biconcave disc shape (elliptocytes or ovalocytes)

• Although pathological in humans, elliptocytosis is normal in camelids.

Elliptocytosis

Sickle-cell disease

• Inherited abnormality in the oxygen-carrying protein haemoglobin(hemoglobin S): two abnormal copies of the haemoglobin gene, one from each parent.

• A rigid, sickle-like shape of red blood cells• Attacks of pain ("sickle-cell crisis"), anemia, swelling in the hands

and feet, bacterial infections, and stroke.

• An attack can be set off by temperature changes, stress, dehydration, and high altitude.

• A person with a single abnormal copy does not usually have symptoms and is said to have sickle-cell trait (carriers).

• Diagnosis is by a blood test and some countries test all babies at birth for the disease. Diagnosis is also possible during pregnancy.

Sickle-cell anemia

Vitamin B12 deficiency anemia

“Pernicious anemia”: megaloblastic anemia resulting from vitamin B12 deficiency due to lack of intrinsic factor.

Impaired IF production:• autoimmune destruction of parietal cells, which secrete IF. • Gastrectomy• A rare congenital autosomal recessive disorder• Other causes: a poor diet, celiac disease, and a tapeworm infection

Diagnosis:• Blood tests may show fewer but larger red blood cells, low numbers

of young red blood cells, • low levels of vitamin B12• antibodies to intrinsic factor.

Pernicious anemia

Atrophic glossitis in a patient with pernicious anemia. Mucosal atrophy appears as smooth, bald areas devoid of lingual papillae on the dorsal tongue.

• Vitamin B12 deficiency anemia, of which pernicious anemia is a type, is a disease in which not enough red blood cells are present due to a lack of vitamin B12. The most common initial symptom is feeling tired. Other symptoms may include shortness of breath; pale skin; chest pain; numbness in the hands and feet; poor balance; a smooth, red tongue; poor reflexes; and confusion.

• Lack of intrinsic factor is most commonly due to an autoimmune attack on the cells that make it in the stomach. It can also occur following the surgical removal of part of the stomach or from an inherited disorder.

• When suspected, diagnosis is made by blood and, occasionally, bone marrow tests. Blood tests may show fewer but larger red blood cells, low numbers of young red blood cells, low levels of vitamin B12, and antibodies to intrinsic factor.

Clinical feature

MYELOPROLIFERATIVE DISORDERS

Myeloproliferative disorders

A group of conditions that cause blood cells, platelets, white blood cells, and red blood cells, to grow abnormally in the bone marrow.

• Polycythemia vera: overproduction of blood cells, especially red blood cells (more than 95% patients carry the blood mutation JAK2V617F)

• Essential thrombocytosis: overproduction of platelet cells.• Chronic myelogenous leukemia: production of abnormal

granulocytes.• Primary or idiopathic myelofibrosis: overproduction of

collagen or fibrous tissue in the bone marrow. This reduces bone marrow's ability to produce blood cells (myelosclerosis).

Polycytemia

Polycythemia (erythrocytosis): an increase above normal in the number of red cells in the circulating blood, usually accompanied by an increase in the quantity of hemoglobin and in the volume of packed red cells.

• The increase may be either an actual rise in the total quantity of red cells in the circulation,

• The result of a loss of blood plasma and thus a relative increase in the concentration of red cells in the circulating blood (relative polycythemia): marked loss of body fluid - persistent vomiting, severe diarrhea, or copious sweating.

Polycythemia can occurs in a response to an increased demand for oxygen:• high altitudes,• impaired pulmonary ventilation.• extreme obesity also may severely impair pulmonary ventilation and

thereby cause polycythemia (pickwickian syndrome).• congenital heart disorders.

Polycythemia vera

• Myeloproliferative disorder, an excessive proliferation of erythroid elements

• RBC: 6 - 12 1012/l

• hemoglobin concentration: 180 - 240 g/l

• often also the numbers of white cells and platelets are increased

• the spleen usually is enlarged.

Polycythemia Rubra Vera (PV)

Hypercellular Marrow,

Red skin & Hepatosplenomegaly

• Fatigue, general malaise• Trouble breathing• Intense itching after bathing in warm water• Stomachaches• Purple spots or patches on the skin• Nosebleeds, gum or stomach bleeding, or blood in the urine• Throbbing and burning pain in the skin, often with darkened,

blotchy areas• Headache and problems with vision• High blood pressure• Blockage of blood vessels. This may cause heart disease, stroke, or

gangrene of the arms and legs

WHITE BLOOD CELLS

White blood cells

Normal WBC Production:

Function

Neutrophils (granulocytes): the body’s main defense against bacterial infections and fungal infections.

Eosinophils:• Defense against parasitic infections• Defense against intracellular bacteria• Modulation of immediate hypersensitivity reactions• Eosinophils may modulate immediate hypersensitivity

reactions by degrading or inactivating mediators released by mast cells, such as histamine, leukotrienes (which may cause vasoconstriction and bronchoconstriction), lysophospholipids, and heparin.

Basophils: Release histamine for inflammatory responses, responsible for allergic and antigen response.

Monocytes: migrate from the bloodstream to other tissues and differentiate into tissue resident macrophages, Kupffercells in the liver.

Lymphocyte: • B cells: releases antibodies and assists activation of T cells• T cells:

– CD4+ Th (T helper) cells: activate and regulate T and B cells– CD8+ cytotoxic T cells: virus-infected and tumor cells.– γδ T cells: bridge between innate and adaptive immune

responses; phagocytosis– Regulatory (suppressor) T cells: Returns the functioning of the

immune system to normal operation after infection; prevents autoimmunity

Blood cell count (SI units)

White blood cell count

• 3.5 – 10.5 109/l

• Neutrophil 62%

• Lymphocyte 30%

• Eosinophil 2.3%

• Basophil 0.4%

• Monocyte 5.3%

WBC disorders

Leukopenia:• Neutropenia• Lymphopenia• PancytopeniaLeucocytosis:• Neutrophillia• Eosinophillia• Lymphocytosis – infectious mononucleosis (IM)• LymphadenitisNeoplastic disorders (cancer):• Lymphoma• Leukemia (AML/ALL, CML/CLL)

Leukopenia

• Leukopenia: WBC < 4.0 109/l

• Neutropenia: neutrophils < 1.5 109/l

• Lymphocytopenia: lymphocytes < 1.0 109/l

• Monocytopenia: monocytes < 0.5 109/l

Neutropenia

• Neutropenia: neutrophils < 1.5 109/l

• Neutrophil counts are not as stable as other cell counts and may vary considerably over short periods, depending on many factors such as activity status, anxiety, infections, and drugs.

• Several measurements may be needed when determining the severity of neutropenia.

Neutropenia: Etiology

Neutropenia due to intrinsic defects in myeloid cells or their precursors:• Aplastic anemia• Chronic idiopathic neutropenia, including benign neutropenia• Cyclic neutropenia• Myelodysplasia• Neutropenia associated with dysgammaglobulinemia• Paroxysmal nocturnal hemoglobinuria• Severe congenital neutropenia (Kostmann syndrome)• Syndrome-associated neutropenias (eg, cartilage-hair hypoplasia syndrome, dyskeratosis congenita, glycogen

storage disease type IB, WHIM* syndrome, Shwachman-Diamond syndrome)Secondary neutropenias:• Alcoholism• Autoimmune neutropenia, including chronic secondary neutropenia in AIDS• Bone marrow replacement (eg, due to cancer, myelofibrosis, granuloma, or Gaucher cells)• Cytotoxic chemotherapy or radiation therapy• Drug-induced neutropenia• Folate deficiency, vitamin B12 deficiency, or severe undernutrition• Hypersplenism• Infection• T cell large granular lymphocyte disease• *WHIM = warts, hypogammaglobulinemia, infections, myelokathexis.

Neutropenia

Acute neutropenia (occurring over hours to a few days) can develop as a result of rapid neutrophil use or destruction or due to impaired production.

Chronic neutropenia (lasting months to years) usually arises as a result of reduced production or excessive splenic sequestration.

Neutropenia: Symptoms and Signs

Asymptomatic until infection develops:

• Fever

• Signs of inflammation (erythema, swelling, pain, infiltrates, leukocytic reaction)

• Focal symptoms (eg. oral ulcers)

Neutropenia - infections

The most common bacterial causes: Staphylococcus aureus, but other gram-positive and gram-negative infections also occur.

• Cellulitis• Furunculosis• Pneumonia• Septicemia• Stomatitis, gingivitis, perirectal inflammation,

colitis, sinusitis, paronychia, and otitis media often occur.

Leukopenia: Neutropenia

Lymphocytopenia

• The most common cause of temporary lymphocytopenia is a recent infection, such as the common cold.

• infections with HIV and other viral, bacterial, and fungal agents,

• malnutrition, • systemic lupus erythematosus, rheumatoid arthritis,• severe stress• chemotherapy, such as with cytotoxic agents or

immunosuppressive drugs. • radiation, such as those involved with nuclear accidents or

medical whole body radiation

Monocytopenia

• Monocyte count to < 0.5 109/l • Monocytopenia frequently occurs with chemotherapy-induced

myelosuppression.• A severe deficiency or absence of monocytes can occur in patients

with mutations of the hematopoietic transcription factor gene, GATA2.

• Tissue macrophages are usually preserved.• Infections with Mycobacterium aviancomplex (MAC) or other

nontuberculous mycobacterial infections are common (MonoMACsyndrome).

• Fungal infections (ie, histoplasmosis, aspergillosis)• Infections with human papillomavirus (HPV) - subsequent risk of

progression to secondary cancers.

Leucocytosis: Neutrophillia

Increased granulocytes:

• Acute inflammation, Bacterial infections.

When severe – Leukemoid reaction.

Clinical features:

– Infections or Trauma - fever, fatigue.

Neutrophilia:Toxic Granulation &

Left shift:

Acute inflammation Bacterial, trauma, immune, etc

Band forms & Phagocytic granules in cytoplasm

Eosinophilia

• allergic disorders,

• during certain infections (typically parasitic), and as a result of numerous other causes.

Lymphocytosis: Infectious Mononucleosis

• Increased Lymphocytes:

– Chronic inflammation, viral, fungal, TB etc.

• Large lymphocytes, more cytoplasm. Irregular, indented by RBC – also known as virocyte

• Clinical features: Chronic fever, lymphadenopathy.

Lymphadenitis: Reactive

• Acute or Chronic.

• Infections, Immune & Cancers.

• Increased large irregular lymphoid follicles

with normal architecture.

• Lymphadenitis: Enlarged lymphnodes due

to inflammation or infecitons. Painful.

• Lymphadenopathy – any enlargement, but commonly used for cancers – Painless.

Hematologic Neoplasms

Leukemias: Bone marrow, blood, blasts• Duration: Acute/Chronic• Cell of Origin: Myeloid/Lymphoid• AML / ALL & CML / CLLLymphomas: lymph nodes, tumor• Hodgkins & Non-Hodgkins. Premalignant conditions: • Myeloproliferative syndromes (MPS)• Myelodysplastic syndromes (MDS)

Leukemia: Blood Cancer

• Cancer of blood forming – stem cells (blasts).

• Two major types: myeloid and lymphoid (starts in bone marrow or lymphatic tissue)

• Spread to blood and other ‘RES’ tissues only. (Liver, Spleen and lymph nodes)

• Two clinical presentation: acute and chronic.

Chronic Myeloid LeukemiaAcute Myeloid Leukemia

Normal

Leukemia

Leukemia: Clinical Features

Cancer of Bone marrow: Excess blasts.Decreased Haemopoiesis:• Erythropoiesis: anemia• Leukopoiesis: infections• Thrombopoiesis: bleedingBone marrow expansion/destruction:• Bone pains.Extraneous hemopoiesis / spread:• Splenomegaly• Hepatomegaly• Lymphadenopathy (more in lymphatic malignancy)

Leukemia Clinical features:

Bleeding - Petechiae

Lymphadenopathy

HepatosplenomegalyInfections - Candidiasis

Leukemoid Reaction

• Marked increase in neutrophils >50,000 x109

• Shift to left - immature forms.

• Severe infection, trauma, bone marrow infiltration.

• Looks like leukemia (but no blasts)

Neoplastic disorders (cancer):Lymphoma

Tumour of lymphoid tissue

• Etiology: idiopathic, genetic, infection.

• Clinical: Lymphadenopathy, weight loss, fever.

Two Major Types: (and many subtypes.)

• Hodgkins lymphoma (HL) – Reed Sternberg cells (RS cells).

• Non-Hodgkins lymphoma (NHL) – no RS cells.

• B cell, T cell & Histiocytic lymphoma.

Lymphoma

Row of enlarged lymph nodes

Hodgkins Lymphoma

Big binucleate cancer cells known as

Reed Sternberg Cells (RS cells)

Non-Hodgkins Lymphoma:

• Large group of lymphatic neoplasms.

• Clinical: Fever, anemia, infections, Lymphadenopathy. Spleen+/-.

• No RS cells or eosinophilia

• Complex names and classification.

– Cell type – B, T & Histiocytic “B commonest”

– Special types: Burkitts lymphoma, Myeloma, Waldenstroms macroglobulinemia

Non Hodgkins Lymphoma

Case #1

Patient presentation:• A 29-year-old woman, the second trimester of pregnancy

with her first child, a regular check-up• Pt though her pregnancy had been progressing normally

Her complains:• Tiredness• shortness of breath even from the slightest activity• Periods of light-headedness, but not to the point of fainting• Cramping in her legs• The sore tongue

Physical examination

• Tachycardia

• Pale gums and nail beds

• Swollen tongue

Blood test results

Red blood cells count 3.5 1012/l

Hemoglobin 70 g/l

Hematocrit 30 %

Serum iron low

Blood smear

Conclusion

• Iron deficiency anemia

Case #2

Patient presentation:

• A 56-year-old man, admitted to the hospital because of a pathological blood test performed routinely before a minor surgery

His complains:

• Non-specific

Blood tests:• An increase in the number of red blood cells• Increased percentage of red blood cells (hematocrit)• Elevated levels of hemoglobin• Very low levels of erythropoietin (a hormone that

stimulates bone marrow to produce new red blood cells)

Tests for the gene mutation that causes polycythemiavera:

• might show the JAK2 mutation

Severe PV

Hypercellular Marrow,

Red skin & Hepatosplenomegaly

Conclusion

• Polycytemia rubra vera

Possible symptoms

Many people with polycythemia vera don't have signs or symptoms.

• Itchiness, especially following a warm bath or shower• Headache, Dizziness • Bleeding or bruising, usually minor• Weakness, fatigue, shortness of breath• Blurred vision• Excessive sweating• Painful swelling of one joint, often the big toe• Numbness, tingling, burning or weakness in your hands, feet, arms

or legs• A feeling of fullness or bloating in your left upper abdomen due to

an enlarged spleen• Fevers• Unexplained weight loss

Complications

• Blood clots. Increased blood thickness and decreased blood flow, as well as abnormalities in platelet: risk of a stroke, a heart attack, pulmonary embolism, or deep vein thrombosis.

• Enlarged spleen (splenomegaly)• Problems due to high levels of red blood cells:

e.g. open sores on the inside lining of stomach, upper small intestine or esophagus (peptic ulcers) and inflammation in joints (gout).

• Other blood disorders: myelofibrosis, myelodysplastic syndrome, or acute leukemia.

Case #3

Patient presentation:

• 64-year-old man with high fever, pneumonia

Medical history:

• Cancer with consequent chemotherapy

• White blood cell count (WBC): lower (normal range 4.5 – 10 109 /l

Absolute neutrophil count (ANC): (normal range 2.5- 6. 109 /l)

• ANC of 1 – 1.5: mild (a minimal risk of infection)• ANC of 0.5 - 1: moderate (a moderate risk of

infection)• ANC less than 0.5: severe (a high risk of

developing an infection)

Conclusion

• Neutropenia after chemotherapy because of cancer