Case Summary John a 4 year old boy ,complains of - PowerPoint Presentation

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Case Summary

John a 4 year old boy ,complains of

a weakness, fatigue, and dyspnea

(labored breathing).

Parents encounter

bouts of fatigue

, but have never consulted a physician.

Parents are from Greece. Significance: Greeks have agenatic predilection for certain diseases.

Key information pointing to diagnosis

Patient presents with anemia. Weakness, fatigue, and dyspnea are symptoms of anemia.

CBC

WBC: 11.4*10^9/L

RBC: 1.7*10^12/L

LOW

HB: 8.3g/dl

LOWHCT: 0.24L/L LOW

MCVC: 69fL.

LOW

MCH: 21pg

LOW

MCHC: 29.2 g/dl LOWPlatlets : 172*10^9/L

Microcytic/hypochromic

Moderate

pokilocytosis.Polychromasia and target cell. tear drop cells.H inclousion.

CBC LOW RBC, HB, and HCT. (Anemia)Hypochromic/microcytic.Peripheral Blood SmearPolychromasia and target cells (dominant)

Target cells/Codocytes

Additional lab confirming the diagnosis:

Hemoglobin electrophoresis

and

Iron panel.

HbA

66% LOW

HbA2 1.0%HbF 1.0%Hb barts 8% Abnormally present

HbH 24% Abnormally present Serum iron 92ug/dl TIBC 310ug/dlSerum ferritin 88 ug/ml Iron saturation 33%

Hemoglobin electrophoresis results Abnormal.

HbA

level are low

8%

Hb Barts and 24%Hb H are abnormally present .

Iron studies are Normal Alpha thalassemia is commonly found in

Mediterranian people .

The diagnosis for case 1

Iron Deficiency Anemia:

Iron panel normal

Hemoglobinopathies

and beta Thalassemia

Alpha chains decreased: LOW Hgb A 66% (95%_98%)

Beta and Gamma chains in excess Hgb H 24%,

Hgb Barts 8%.Hgb S, SC, C : NO Sickle cells or crystals present. Diagnosis : Hemoglobin H Disease (alpha Thalassemia)

Pathophysiology of HB H Disease

Patient with deletional HB H Disease lack 3 of the alpha globin genes.

Patient with Non-deletional HB H Disease lack of 2 of alpha globin genes and 1 of the present genes is abnormal.

Gene deletion result in excess gamma and beta chains.

Excess (gamma4 tetramers) form in the fetus.

Excess (beta4 tetramer) form in adult.

HB H Disease (B4) ranges from 5 to 30% of HB in patient with the disease(24%)in this case.

HB H has a high affinity for oxygen ,resulting less O2 delivered to the tissues.

HB H forms an intracellular precipitate.

Precipitates make HB H RBCs more rigid leading to culling in the spleen .

HB H Disease is mainly a hemolytic disorder.

Precipitates may also cause ineffective erythropoiesis..

Peripheral blood film in HB H disease

Diagnostic Tests For HB H Disease

Hemoglobin electrophoresis is used to quantify and identify hemoglobin type .

Brilliant

cresyl

blue stain can display HB H inclusions.

An inclusion body positive cell seen in Brilliant

Cresyl

Blue stained red cells of a α0-thalassaemia carrier. Inclusion Bodies are β4-tetramers

High performance Liquid Chromatography can quickly separate different

hemoglobins

.

Therapy and prognosis for HB H Disease

For severe anemia : blood transformation.

Splenectomy.

Hematopoietic stem cell transplantation.

_ Require bone marrow transplant

_ Only in severe cases.

Prognosis:

Proper care reduces medical complications

Good prognosis with treatment.

Therapy:

Take Home Massage:

The diagnosis is HB H (alpha thalassemia)

Typical symptoms

:

- Fatigue, weakness and dyspnea

The cause of disease:

-3 alpha chain gene deletion.

Diagnosis tests:

-CBC, Iron panel, Hemoglobin electrophoresis

.

Treatment

:

_ Intermittent blood transfusions for sever anemia.

_ Splenectomy then bone marrow transplant in sever anemia.

_ Dietary restriction and avoiding certain medication. Prognosis: Prognosis is good with proper medical care.

Prevention is genetic counseling with family history.Prenatal testing.