Cyanotic Child
IDZIHAR JAMALUDDIN HBA12032391
Haematological causes
Polycythaemia
Methemoglobinemia
Sulfhemoglobinemia
1. Polycythaemia
Having a high concentration of red blood cells in the blood.
The common symptoms include :
Blurred vision
Chest pain
Headaches
Itching
Muscle pain
Dizziness
High blood pressure
Tinnitus or ringing in the ears
Cont
Types of polycythaemia :
Primary polycythaemia: increase in red blood cells is due to inherent problems in their production.
Secondary polycythaemia: generally occurs as a response to other factors or underlying conditions that
promote red blood cell production.
Neonatal ( newborn) polycythaemia can be seen in 1% to 5% of newborns. The most common
causes may be related to transfusion of blood, transfer of placental blood to the infant after
delivery, or chronic inadequate oxygenation of the foetus (intrauterine hypoxia) due to placental
insufficiency.
Primary polycythaemia
due to acquired, or inherited, genetic mutations, causing abnormally high levels of red blood
cell precursors. There are 2 types :
1.Polycythaemia rubra vera
It is a rare condition typically associated with abnormally high levels of red blood cells and often
an elevated white blood cell count and platelet count. An enlarged spleen and low
erythropoietin levels are also one of the features.
2.Primary familial and congenital polycythaemia (PFCP)
PFCP is also thought to be caused by genetic mutations resulting in increased responsiveness to
normal levels of erythropoietin. Most cases are caused by different mutations to the EPOR gene.
Secondary polycythaemia
usually due to increased erythropoietin (EPO) production either in response to chronic hypoxia
(low blood oxygen level) or from an erythropoietin-secreting tumour.
Common conditions causing chronic hypoxia are:
Emphysema and chronic bronchitis(COPD)
Chronic heart diseases
Sleep apnoea
Pulmonary hypertension
Abnormal blood flow to the kidneys can be perceived by the kidneys as decreased oxygenation
(renal hypoxia), even though other tissues may have normal oxygenation. Renal hypoxia may
promote an increase in erythropoietin production.
People living in high altitudes can develop polycythaemia.
Cont
Erythropoietin-secreting tumours
Certain tumours can release increased amounts of erythropoietin. The most common are:
Liver cancer (hepatocellular carcinoma)
Kidney cancer (renal cell carcinoma)
Adrenal adenoma (adenocarcinomas)
Uterine (womb) tumours
Occasionally, benign kidney cysts and kidney obstruction (hydronephrosis) can also secrete extra
erythropoietin, causing polycythaemia.
A rare genetic condition, called Chuvash polycythaemia, causes increased activity of the gene
that produces erythropoietin. The overproduction of erythropoietin causes polycythaemia.
2.Methemoglobinemia
Methemoglobinemia is a blood disorder in which an abnormal amount of methemoglobin is
produced.
It can be either inherited/congenital Or acquired.
There are two forms of inherited methemoglobinemia. The first form is passed on by both parents.
The parents usually do not have the condition themselves, but they carry the gene that causes the
condition. It occurs when there is a problem with an enzyme called cytochrome b5 reductase.
There are two types of this form of methemoglobinemia:
Type 1 (also called erythrocyte reductase deficiency) occurs when red blood cells lack the enzyme.
Type 2 (also called generalized reductase deficiency) occurs when the enzyme doesn't work anywhere in the
body.
The second form of inherited methemoglobinemia is called hemoglobin M disease. It is caused by
defects in the hemoglobin protein itself. Only one parent needs to pass on the abnormal gene for the
child to inherit the disease.
Cont
Acquired methemoglobinemia is more common than the inherited forms. It occurs in some
people after they are exposed to certain chemicals and drugs, including:
Anesthetics (benzocaine)
Benzene
Certain antibiotics (including dapsone and chloroquine)
Nitrites (used as additives to prevent meat from spoiling)
The condition may also occur in infants who are very ill or who are fed too many vegetables containing
nitrates (such as beets).
3. Sulfhemoglobinemia
It is a rare condition in which there is excess sulfhemoglobin (SulfHb) in the blood. The pigment
is a greenish derivative of hemoglobin which cannot be converted back to normal, functional
hemoglobin. It causes cyanosis even at low blood levels.
It occurs when a sulfur atom is incorporated into the hemoglobin molecule. When hydrogen
sulfide (H2S) (or sulfide ions) and ferric ions combine in the blood, the blood is incapable of
carrying oxygen.
Cont
Caused by taking medications that contain sulfonamides under certain conditions (i.e.
overdosing of sumatriptan).
It is usually drug induced. Drugs associated with sulfhemoglobinemia include :
o Acetanilide
o Phenacetin
o Nitrates
o trinitrotoluene and sulfur compounds (mainly sulphonamides, sulfasalazine).
Another possible cause is occupational exposure to sulfur compounds.
It can be caused by phenazopyridine.
