Ali a 11years old was admitted to the hospital complaining of severe pain in his knee and back .two of his four sibling have the same disorder . he has been admitted to the hospital on numerous time
Physical examination reveals a thin male in acutr distress complaining of severe pain
HEEN exam is positive for corkscrew vessels of the schlerae icterus , and shotty cervical lymph nodes
Abdominal exam revealed no splenohepatomegaly . tenderness or masses
Temp 37.8
BP 140/90 mmhg
Pulse 84

Hb 7.8 g/dl
Wbc 15.8
RBC 2.5
MCV 85 ft
MCHC 36.5
Platelet 468
LDH 1260 U/L
HPLC = 90% Hbs
9% Hb F
1% Hb A

DC
N 76%
BAND 10%
L 9%
M 3 %
E 1%
B 1%


Blood film
Target cell , ovalocytes , polychromachia
Nucleated RBC , HJ bodies
Anemia


وهذا التحليل المتواضع مني اجتهاد خاص :sm188:..........

Lab investigation analysis:
The CBC lab investigation of ali which has 11 years old indicate that there are reduction in the red blood cell (RBC's) count which was 2.5*10 and the normal range from 4.5-6.5*10 and this reduction affect the hemoglobin(Hb) count to reduce also to 7.7g/dl which is less than normal range (13-18)g/dl. Which mean that the patient is suffering from anemia.
Moreover the CBC result show that the MCV count is 85fl which is within normal range and we called it in this case normocytic and I did calculation for MCH dependence on the result of Hb and RBCs of the patient and I found its 31.2pg which is within normal range (27-34)pg and we called it in this case normochromic
So from above result we can say that this patient suffering from normocytic normochromic anemia.
Howere there is slightly increase in MCHC count to 36.5g/dl which is more than the normal range by only 0.5 g/dl
And there are also increase in the WBC count and platelets count more than normal range
And for LDH test we found that the result is high than normal range which was 1260U/L and the normal range is from 75-200U/L and the LDH can rise in case of hemolytic anemia or liver disease and we can see that from singe of the patient which is suffering from schleral icterus or jaundice
Furthermore when we look for the HPLC test result we found it's as the following…
HbS 90% - HbF 9% - HbA 1%
Which indicate highly increase of HbS which is abnormal hemoglobin indicate that the patient has sickle cell anemia. And on the other hand the normal hemoglobin which is HbA is very low.
Differential count of blood film shows that there are 76% of nutrophil which is more than the normal range which is from (50-60)% and in this case we called it nutrocytosis. And there are 10% of bands due to high WBC.
On the other side there are low count of lymphocyte which is 9% which is low than normal range which is (30-38) % and its called lymphopenia in this case. And this reduction is due to shotty cervical lymph nodes which are one of the secondary sites that produce lymphocyte.
Also the eosinophile count is low than normal, however the monocyte and basophile are within the normal range
Blood film shows there are
1-Target cell percent in this patient blood due decrease of the hemoglobin count and these cells are indicative of an anemia state.
2- Ovalocyte is a type poiklocytes of red blood cells present on the peripheral smear of sickle cell anemia.
3-Polychromachia that mean there is high amount of reticulocytosis which one of singe of sickle cell anemia as the bone marrow compensates for the destruction of sickle cells by producing more red blood cells
4-NRBC: nucleated red blood cell is another indicator may present in case of sickle cell anemia.
5- HJ bodies: Howell-Jolly bodies may be seen in sickle cell anemia. These bodies are DNA that stain dark purple within the red blood cell due to high WBC count.

Final diagnosis
ali is suffering from the sickle cell anemia due to all the above result

Pathogenesis
In the humans the normal Hb is HbA and its makes from 96-97% of the normal hemoglobin and here glutamic acid is on the 6th position of the beta chain, however
in sickle cell disease, a mutation of the beta-globin gene results in the substitution of valine for glutamic acid in the sixth amino acid of the chain, producing a hemoglobin, designated hemoglobin S, that has less solubility than does normal hemoglobin A.

Further lab investigation:
1- Sickling of the red blood cells Screening tests for sickling are positive
2- sickle solubility test
3- hemoglobin electrophoresis to detect abnormal Hb no Hb A is detected. The amount of Hb F is variable 5-15%
4- DNA studies also could be performed or RT-PCR (reverse transcriptase Polymerase chain reaction) could be done, to assure mutation type.