Hematological Diseases Overview

Study Notes

Hematopoiesis begins with hematopoietic stem cells in the adult bone marrow
Three key factors for red blood cell (RBC) formation: iron, erythropoietin, and vitamin B12
RBC lifespan: 120 days
Platelet lifespan: 5-10 days
Neutrophil lifespan: 6-8 hours
Lymphocyte lifespan: many years
Senescent cells are removed by the spleen, liver, and bone marrow through phagocytosis
Mean corpuscular volume (MCV): measures the average RBC volume
Mean corpuscular hemoglobin (MCH): measures the average weight of hemoglobin
Mean corpuscular hemoglobin concentration (MCHC): measures the average concentration of hemoglobin per unit volume
Hematocrit (HCT): percentage of whole blood occupied by intact red blood cells

A rare, potentially fatal blood disorder characterized by pancytopenia and hypocellular bone marrow
Etiology can be idiopathic, inherited (Fanconi Anemia), or acquired (due to toxins, viruses, radiation, or drugs, like sulfonamides and anti-rheumatic drugs)
Clinical features include anemia, leukopenia (increased infection susceptibility), thrombocytopenia (bleeding), and oral manifestations (pallor, gingival bleeding, etc.)
Diagnosis requires hypocellular bone marrow and depression of at least one blood cell lineage
Lab findings: normal MCV and MCHC

Erythrocytosis is an increase in circulating red blood cells (characterized by raised hematocrit)
Conditions are categorized as relative or absolute and based on primary causes or secondary causes.
Relative Erythrocytosis: The red blood cell count is normal, but plasma volume is low
Absolute Erythrocytosis:The red blood cell count exceeds 125 % of the predicted value, often indicative of Polycythemia Vera (PV), associated with increased blood viscosity
Polycythemia Vera (PV): A rare disease with an elevated red blood cell count and increased blood viscosity, where etiology may include genetic mutations
PV oral manifestations: erythema (red-purple color) of mucosa, glossitis, gingival bleeding tendency, varicosities in the ventral tongue
Oral health considerations about erythrocytosis must be assessed before initiating any treatment and therapy

IDA is a microcytic hypochromic anemia
Causes include chronic blood loss, impaired iron absorption, and increased iron requirements
Clinical features include general manifestations such as pallor, fatigue, dyspnea, palpitation, tachycardia, bone pain, and oral manifestations such as pale oral mucosa, angular cheilitis, glossitis, and recurrent aphthous stomatitis
Diagnosis involves clinical presentation and laboratory findings

A syndrome of glossitis, cheilosis, dysphagia, and esophageal webs, sometimes associated with iron deficiency anemia
Oral symptoms include burning sensation of lips and tongue, beefy-red tongue, dysphagia (solids)
Treatment is focused on iron supplementation

Vitamin B12 and folate deficiency are common causes of megaloblastic anemia (normochromic/macrocytic anemia)
These deficiencies impair DNA synthesis
Vitamin B12 is essential for neurological development
Causes of deficiency include malabsorption (e.g. atrophic gastritis, Crohn's disease), certain medications (e.g. proton pump inhibitors), and surgical resections

Inadequate intake or increased physiologic requirement (pregnancy, lactation) may cause folate deficiency anemia
Laboratory testing for diagnosis can include blood tests

An autoimmune disease that targets intrinsic factor, essential for vitamin B12 absorption
Results in vitamin B12 deficiency
Clinical characteristics include neurological symptoms along with other symptoms of anemia, often characterized by severe vitamin B12 deficiency

A group of diseases in which red blood cells are destroyed at a faster rate than they are produced.
When bone marrow is unable to keep up, hemolytic anemia develops.
Hemolytic anemia can be inherited or acquired, and symptoms, and diagnosis are variable depending on the cause.

Inherited disorders or abnormalities of hemoglobin synthesis.
Sickle Cell Disease: A hereditary disease where a point mutation in the hemoglobin beta globin gene results in abnormal hemoglobin (HbS) that polymerizes under low oxygen conditions, leading to the formation of sickle-shaped red blood cells
Consequences: shortened lifespan of red blood cells, vaso-occlusive events, and hemolytic anemia, requiring treatment to manage symptoms.
Symptoms can include increased periodontitis, mucosal pallor, delayed eruption, discolored or depapillated tongues, and osteomyelitis.

A group of inherited autosomal recessive disorders characterized by a disturbance of either alpha (a) or beta (β) Hb chain production
Oral manifestations : Pallor, weakness, jaundice, and abnormal facial bones with deformed craniofacial changes