Disorders of Red Blood Cells

DISORDERS OF RED BLOOD
CELLS
ANEMIA
• ANEMIA OF REDUCED ERYTHROPOIESIS
• IRON DEFICIENCY SYNDROME
• MEGALOBLASTIC ANEMIA
• APLASTIC ANEMIA
• THALASSEMIA
POLYCYTHEMIA
ANEMIA
ANEMIA IS A REDUCTION LEADS TO DECREASE
IN THE TOTAL IN THE OXYGEN
ERYTHROCYTE MASS IN
THE PERIPHERAL CARRYING CAPACITY
CIRCULATION OF BLOOD
MOST COMMON
TISSUE HYPOXIA HEMATOLOGICAL
DISORDER
CLASSIFICATION
UNTREATED ANEMIA WILL LEAD TO A GROUP
OF CLINICAL MANIFESTATIONS IN TIME. THESE
INCLUDE:
Pallor of skin and mucosa
Weakness
Shortness of breath on mild exertion
Dizziness
Fast and irregular heartbeat
Pounding or whooshing in the ears
Headache
Long term anemia can eventually lead
to cardiac failure
MEGALOBLASTIC ANEMIA
Megaloblastic anemia is a type of

anemia characterized by very
large red blood cells
Megaloblasts are typically large
cells with mature cytoplasm and
small immature nuclei
 Vitamin B12 –deficiency anemia
and folate deficiency anemia are
the major variants of
megaloblastic anemia
PERNICIOUS ANEMIA
ADDISON’S ANEMIA
Oldest and most widely known Best known form of vitamin B12
disease associated with vitamin deficiency anemia
B12 deficiency
Also called
BIERMER DISEASE
Autoimmune related form of This leads to a deficiency of
anemia in which cellular intrinsic factor and the resultant
immune reaction destroys vitamin B12 deficiency
gastric parietal cells
CLINICAL FEATURES
 Common in adults with a
prevalence of 15-40%
 20%- in industrialized countries
 Developing and resource poor
populations have much higher
rates
 Typical anemia related symptoms –
fatigue , pallor , breathlessness
and palpitation
Extensive intramedullary

hemolysis may lead to jaundice
 LEMON YELLOW skin color
NEUROLOGICAL MANIFESTATIONS
 Peripheral polyneuritis
 Numbness
 Pain
 Tingling and burning of extremities
 Unsteady gait
 Optic nerve atrophy : loss of vision
ORAL MANIFESTATIONS
 Earliest indicators of cobalamin deficiency
 Most characteristic oral presentation is HUNTER OR MOELLER
GLOSSITIS-31% of cobalamin deficiency cases with associated
neurological syndrome
 Tongue –atrophic and smooth
 Loss of papillae
 Red due to patchy or diffuse erythematous lesions
 BEEFY TONGUE
 Alteration of taste
 Stomatitis
 Cheilitis
 Recurrent ulcers
HEMATOLOGICAL FINDINGS
Total RBC and Hb may be

considerably LOWER than
normal
MCV is increased
MCHC remains normal
PERIPHERAL SMEAR MORPHOLOGY
 MACROOVALOCYTES – characteristic of megaloblastic
anemia
 Anisocytosis and poikilocytosis
 Reticulocyte counts are reduced
 HOWELL-JOLLY bodies are commonly seen
 Neutrophils are large , hypersegmented nuclei
 Hypersegmentation is followed by neutropenia
 Pear shaped or teardrop shaped erythrocytes are also
present
BONE MARROW
 Bone marrow-hypercellular
 Megaloblasticchanges and nuclear –cytoplasmic

maturation asynchrony are seen in erythrocytic
, granulocytic and at times thrombocytic cell
lines
 ERYTHROPOIESIS is most affected with nuclear

dysmaturation and larger cell size
 Megakaryocytes may be abnormally large with

bizarre multilobed nuclei
TREATMENT
 Appropriate dietary changes and supplements
 Parenteral and oral administration of

cyanocobalamin
 Long standing neural changes may not be

reversible
 It is advisable to institute parenteral treatment in

patients with neurological symptoms at the onset
FOLATE DEFICIENCY ANEMIA
 Folate or vitamin B9 is a water soluble
vitamin
 Daily requirement :400 micro gram
 Richest sources : green vegetables, fruits
such as lemons, bananas and melons
 Highly sensitive to heat
 Approx 500-2500 micro gram of folate is
stored in the body and a dietary
shortage can lead to anemia
within weeks to months
 Folatedeficiency anemia may be a result of
inadequate intake, impaired absorption , or
increased requirement
 Pathogenesis and clinical symptoms of this anemia
are similar to those seen with vitamin B12
deficiency
 Hyperpigmentation
of the skin and mucosa is
more common in folate deficiency
 Bone marrow and blood examination findings are
also identical to those in vitamin B12 deficiency
 Diagnosiscan be confirmed only by demonstration
of reduced folate levels in the serum or RBCs
TREATMENT
 Oral administration of 1-5mg of folic acid daily
until recovery is the treatment of choice for
folate deficiency anemia.
 Prophylactic administration of folic acid is advised

during pregnancy , lactation and the perinatal
period.
 Patients with hemolytic anemias , psoriasis and

exfoliative disorders of the skin and repeated
renal dialysis should also be considered for folic
acid supplementation
APLASTIC ANEMIA
 Aplastic anemia is PANCYTOPENIA
that is caused by hypocellular bone
marrow
 This condition can be fatal

 Most cases are idiopathic
 Other causes : chemical and biological

agents causing marrow suppression
 Genetic aur inherited

CLINICAL FEATURES
 Life threatening disease
 Higher incidence rate in
Asia
 It can affect any age group
and gender
 Develops slowly
 Initial
symptoms : variable
and depend on the cell line
predominantly affected
eventually
 Progressive weakness
 Pallor
 Breathlessness
 Palpitation
 Thrombocytopenia will give rise to
petechiae , ecchymosis and bleeding
 Neutropenia causes frequent and
recurrent infections, chills and fever
 Skin and mucosal bleeding
 Visual disturbance caused by retinal
bleeding
 Infections
ORAL MANIFESTATIONS
 Mucosal pallor
 Spontaneous gingival
bleeding
 Mucosal petechiae
 Purpura
 Ecchymosis
 Mucosalulcerations with
minimal erythema at the
margins
 Gingival hyperplasia
LABORATORY FINDINGS
 Total blood counts in the
early stages of the disease
may show single cell line
suppression , most commonly
affecting thrombocytes
leading to thrombocytopenia
 Reduced Hb level
 Erythrocytic macrocytosis
 Anisopoikilocytosis
 Neutrophils with toxic
granules
 Platelets reduced in number
and size
BONE MARROW
 A characteristic finding of bone marrow biopsy is an
empty marrow picture
 Marrow is hypocellular
 Prominent fat spaces
 Areas with abnormal erythropoiesis
 Lymphocytes , macrophages , plasma cells and mast
cells have a notable presence in the bone marrow
DIAGNOSIS AND TREATMENT
Diagnosis requires that at least two

of the following criteria be fulfilled :
1) Hb count less than 10 g/Dl
2) platelet count less than 20,000 /
microL
3) neutrophil count less than
500/mm3
 AA can be fatal in more than 70% of
severe cases
 Early diagnosis improves prognosis
 Steps involved in management :
 1) identify and discontinue any causative
drugs
 2) rule out genetic and hereditary causes
 3) stage the disease
 Bone marrow replacement is curative in
immune-mediated and germline mutations
 Early transplants from a histocompatible sibling

donor achieve long term survival rates of over
90% in children , and over 80% in adolescents
 Bleeding and infections cause the highest

morbidity to patients
 Dental hygiene
THANK YOU

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DISORDERS OF RED BLOOD

Megaloblastic anemia is a type of

Total RBC and Hb may be

 Megaloblasticchanges and nuclear –cytoplasmic

 ERYTHROPOIESIS is most affected with nuclear

 Megakaryocytes may be abnormally large with

 Parenteral and oral administration of

 Long standing neural changes may not be

 It is advisable to institute parenteral treatment in

 Prophylactic administration of folic acid is advised

 Patients with hemolytic anemias , psoriasis and

 This condition can be fatal

 Other causes : chemical and biological

 Genetic aur inherited

Diagnosis requires that at least two

 Early transplants from a histocompatible sibling

 Bleeding and infections cause the highest

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