HEMA Flashcards by Maria Cristina Mariano

Diagnostic criteria for DIAMOND-BLACKFAN SYNDROME (4)
Major criteria (2)

PRAM
1. Age <1yo
2. Macrocytic anemia
3. Reticulocytopenia
4. Paucity of BM erythroid precursors

Major:
1. Pathogenic mutations
2. Positive family hx

Minor:
1. Elev eADA
2. Congenital anomalies of DBA
3. Elev HbF
4. No other evidence of inherited BM failure syndromes

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DBA vs TEC

DBA / TEC
> Onset: early / late (after viral infx)
> Lab: Macrocytic / normal
> eADA: elev / normal
> PE: congeniial abn / normal

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Mainstay therapy of DBA

Corticosteroids (Prednisone/Prednisolone 2mkday)
> Inc RBC precursors in 1-3wks)

delayed until after 1yo because steroids impair linear growth and physical and neurocognitive development.

Chronic transfusion therapy.

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Most common ACQUIRED RED CELL APLASIA

Transient erythroblastopenia of childhood

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TRUE or FALSE.
Corticosteroid therapy is the mainstay treatment for Transient Erythroblastopenia of childhood.

FALSE.
> Corticosteroids are of no value in TEC.
> TEC resolves spontaneously after 1-2mos

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Best documented viral cause of red cell aplasia in px w chronic hemolysis, immunocompromised and fetuses in utero

Parvovirus B19
> erythema infectiosum (fifth dse)
> attach to P antigen in RBC
> infective and cytotoxic to marrow cells
> cause aplastic crisis in px w hemolytic dse - severe anemia

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Mechanisms contributing to ACD (3)

Decreased RBC life span
Impaired erythropoiesis
Decreased iron uptake by RES

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Most common form of Congenital Dyserythropoietic Anemia

Type II.
> Autosomal recessive
> AKA Hereditary Eryhtroblastic multinuclearity with positive acidified serum test (HEMPAS)
> May benefit from splenectomy
> normocytic
> Presence of pseudo-gaucher cells

Type I
> AR
> macrocytic
> Swiss Cheese hemochromatic pattern on electron microscopy
> Tx is supportive

Type 3
> AD
> rare
> no iron overload

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Starting dose of iron therapy for anemia of prematurity

1-2mkday elemental Fe
> starting 1 month until 1yo

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Diagnostic test to differentiate IDA from ACD

Soluable transferring Receptor (STfR)
> elevated in IDA

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What level of hgb manifests as irritability, lethargy, anorexia and systolic flow murmurs?

A. <5g/dL
B. <6
C. <7
D. <9

A. <5g/dL

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Most accurate diagnostic test for IDA

Bone Marrow iron staining
> invasive

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IDA: inc or dec

Serum ferritin
Serum transferrin
TIBC
FEP
RDW
MCV
MCH
STfR

PATHOPHYSIOLOGY:
> Tissue iron decrease
> Serum iron decrease = DEC serum ferritin (iron storage protein)
> INC serum transferrin (Binding protein) and INC TIBC, and DEC serurm transferrin saturations
> not enough iron to complex w protoporhyrin to form heme therefore
> INC FEP

Resulting in elliptocytes/cigar sshaped RBC (INC RDW), hypochromic (dec MCH) and microcytic (DEC MCV) and DEC RBC count

MCV is a LATE indicator for iron def

INC soluable transferring receptor (STfR) in IDA

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True or False. MCV is a late indicator for Iron deficiency

TRUE
> MCV is a reliable but late indicator for IDA

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Which indicator for IDA is affected by diurnal variation of serum iron?

A. TIBC
B. Transferrin saturation
C. MCV
D. Serum ferritin
E. Reticulocyte hgb conc.

B. Transferrin saturation
> limited by diurnal variation of serum iron and clinical conditions including inflammation, aging and nutrition

A. TIBC
C. MCV - late indicator for ID
D. Serum ferritin - MOST USEFUL. Also an acute phase reactant.
E. Reticulocyte hgb conc - sensitive indicator and not affected by inflammation

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After how long would you expect bone marrow response and erythroid hyperplasia?

A. 12-24hrs
B. 36-48hrs
C. 48-72hrs
D. 4-30days

B. 36-48hrs

A. 12-24hrs: subjective improvement, replacement of intracellular iron stores, dec irritability, inc appetite and inc serum iron
C. 48-72hrs: Reticulocytosis, peak 5-7days
D. 4-30days: Inc hgb, MCV and ferritin

1-3mos: Repletion of stores

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Dose of iron for IDA

3-6mg/kg of elemental iron daily in 1 or 2 doses

Iron therapy can enhance malarial and G Neg bacterial infections. Iron overdose asstd w Yersinia infx

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Expected hgb elevation daily once iron therapy started

After month: Inc by 1-2g/dL

Daily: 0.1-0.4g/dL/day

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Duration of antibiotic prophylaxis post-splenectomy for hereditary spherocytosis?

Prophylactic oral Penicillin until 5yo or 2yrs after splenectomy

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What blood disorder is protective of Falciparum malaria?

G6PD
> Evolutionary advantage of resistance of falciparum malaria in heterozygous females

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Heinz bodies is appreciated on PBS for what blood disorder?

G6PD Deficiency
> “bite cells” also present

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Vitamin K dependent coagulation factors. (4)

CF II, VII, IX, X

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CF deficiency inheritance
1. Autosomal dominant (2)
2. Sex-linked recessive (2)

Autosomal dominant: CF 1 and 12 deficiency
Sex-linked recessive: CF 8 and 9 deficiency

MOST COMMON inherited Bleeding disorder

Von Willebrand disease

Treatment of vWF disease

1. DDAVP (desmopresin) 2. Plasma derived vWF 3. E-aminocaproic acid - antifibrinolytic agent

IEM associated w megaloblastic anemia

Orotic aciduria > Dev delay > megaloblastic anemia > growth retardation > inc urinary excretion of orotic acid > most common metabolic error in the de novo synthesis of pyrimidines

Which anemia has been identified as the precancer syndrome? A. Pearson Syndrome B. Diamond Blackfan Anemia C. Iron deficiency anemia D. Vit B12 deficiency

B. Diamond Blackfan Anemia > higher risk of developing myelodysplastic syndrome, AML, colon CA, osteogenic sarcoma and female genital cancers

Most severe form of: Alpha thalassemia Beta thalassemia

> Alpha thalassemia: Hydrops fetalis > Beta thalassemia: cooley anemia

Most common leukemia

1. ALL (70%) 2. AML 3. CML 4. CLL

1st line treatment for CML

Tyrosine kinase inhibitor: Imatinib

This chronic leukemia LACKS the Philadelphia chromosome

Juvenile Myelomonocytic Leukemia > Rare > occurs in less than 2yo > Asstd w Noonan syndrome and NF1 Tx: HSCT

Top 3 childhood cancers

1. Leukemia 2. CNS Tumors 3. Lymphomas

Hallmark/classic histologic LN findings in Hodgkin Lymphoma

Reed Sternberg cells > owl's eye within a lymphocyte blanket

Treatment of Hodgkin Lymphoma

4-6 cycles of ABVE Adriamcyin (Doxorubicin) Bleomycin Vincristine Etoposide

Classic Xray finding on Osteogenic Sarcoma

Sunburst pattern > Periosteal lifting and Codmans triangle > Soft tissue mass + calcification

Class Xray finding for Ewing Sarcoma

> Onion-skinning > Moth-eaten lytic lesions "Yung moth may eWINGs 🪽"

Most common solid tumor of INFANCY

Neuroblastoma > Racoon's eyes (periorbital eccymoses) > Inc VMA in urine (urinary catecholamines) > Fever+wt loss

BMA findings in Neuroblastoma

Homer Wright pseudorosette

TRUE or FALSE. Osteosarcoma is both chemo and radiosensitive

FALSE. Between Osteosarcoma and Ewing, Ewing is radiosensitive.

6 oncologic emergencies

1. Hyperleukocytosis (100,000) - risk for leukostasis 2. Tumor Lysis Syndrome - hyper PUK! > Elev: Ph, Uric acid, K 3. SVC syndrome 4. Spinal cord compression 5. Cardiac tamponade 6. Neutropenic enterocolitis/typhilitis

Which of the ff is a medical emergency in children w Sickle Cell disease? A. Hemolysis B. Bleeding C. Fever D. Thrombosis

C. Fever > As early as 6mos of age, infants w sickle cell anemia develop abnormal immune function because of splenic dysfunction > IV antibx: 3rd gen ceph (Ceftriaxone) > Risk of infx from: encapusulated bacteria: S. pneumoniae, H. influenza B, N. meningitidis

Life-threatening complication of Sickle cell disease: A. Acute chest syndrome B. Acute splenic sequestration C. Hand foot syndrome D. A and B Tx?

D. A and B Acute chest syndrome > new radiodensity on CXR plus 2 of the ff: 1. fever 2. respi distress 3. hypoxia 4. cough 5. chest pain Acute splenic sequestration > may occur as early as 5wk old, most often occurs bet 6mos-2yo > Rapid spleen enlargement causing left-sided abdominal pain > Hb decline at least 2g/dL from baseline > Hypovolemia, anemia, (<33g/dL), dec WBC and plt > Tx: correct hypovolemia - Isotonic fluid or blood transfusion > BT aborts blood trapping in the spleen and allows release of the px RBC that have become sequestered in the spleen > BT 5ml/kg or target hgb 8g/dl > Prophylactic splenectomy after acute episode > Complication is hyperviscosity

Most often the first manifestation of pain in Sickle Cell disease A. Acute chest syndrome B. Dactylitis C. Aplastic crisis

B. Dactylitis > AKA Hand foot syndrome > 50% beyond 2yo > symmetrical or unilateral swellingg of the hands or feet

Cardinal clin fx of sickle cell disease

Acute vasoocclusive pain

Classic Fanconi Anemia phenotype triad

1. Bone marrow failure 2. Congenital anomalies > MC skeletal abn: absent radii/thumb- hypoplastic, supernumerary, bifid or absent 3. Chromosomal fragility

Hallmark of hemophilic bleeding is ___.

Hemarthroses

Pentad of Trombotic Thrombocytopenic Purpura

MFAT 1. fever 2. microangiopathic hemolytic anemia 3. thrombocytpenia 4. Abnormal renal and CNS fx > Tx is plassmapheresis > caused by auto-ab mediated deficiency of ADAMTS133

What syndrome? > Giant hemangioma w localized intravascular coagulation > hypofibrinogenemia > thrombocytopenia

Kassabach-Merritt Syndrome

What syndrome? 1. thrombocytopenia 2. eczema 3. recurrent infections as a consequence of immune deficiency

Wiskott Aldrich Syndrome

The ff are more commonly observed in: A. ALL B. AML C. Both subcutaneous nodules gingival infiltration DIC

B. AML Presents w s/sx uncommon in ALL: > Subcutaneous nodules or blueberry muffin lesions (infants) > gingival infiltration > DIC > discrete massess - chloroma or granulocytic sarcomas

MC malignant primary renal tumor

Wilms Tumor > 2nd most malignant abdominal tumor (1st neuroblastoma)

MC malignant abdominal tumor

Neuroblastoma > embryonal cancer of the PNS

Indicators of accelerated RBC destruction (3)

* reticulocytosis * indirect hyperbilirubinemia * increased serum lactate dehydrogenase

MC benign tumor of infancy

Hemagioma